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Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-13627R-A350
Lokale Artikelnummer:: BOSSBS-13627R-A350
Beschreibung:   The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport, and maintain cellular volume. CLC-KA is a kidney-specific chloride channel that mediates transepithelial chloride transport in the thin ascending limb of the Henle loop in the inner medulla. CLC-KA plays a crucial role in urine concentration. The gene encoding human CLC-KA maps to chromosome 1p36. Mutations in this gene may be associated with nephrogenic diabetes insipidus in those cases where mutations in the vasopressin V2 receptor and the AQP2 water channel are lacking. CLC-KB mediates basolateral chloride ion efflux in the thick ascending limb and in more distal nephron segments. The gene encoding human CLC-KB maps to chromosome 1p36. Mutations in this gene cause type III Barter’s syndrome which is characterized by renal salt-wasting and low blood pressure.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-11698R-A680
Lokale Artikelnummer:: BOSSBS-11698R-A680
Beschreibung:   Huntingtin yeast partner E is a 458 amino acid single-pass membrane protein. HYPE is thought to interact with Huntingtin, a protein which induces neurodegeneration when mutated. HYPE also contains two tetratricopeptide repeats (TPR), which may be involved in protein-protein interaction. The gene that encodes HYPE is located on chromosome 12, which encodes over 1100 genes within 132 million bases and makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl
Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-11698R-FITC
Lokale Artikelnummer:: BOSSBS-11698R-FITC
Beschreibung:   Huntingtin yeast partner E is a 458 amino acid single-pass membrane protein. HYPE is thought to interact with Huntingtin, a protein which induces neurodegeneration when mutated. HYPE also contains two tetratricopeptide repeats (TPR), which may be involved in protein-protein interaction. The gene that encodes HYPE is located on chromosome 12, which encodes over 1,100 genes within 132 million bases and makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-13627R-A647
Lokale Artikelnummer:: BOSSBS-13627R-A647
Beschreibung:   The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport, and maintain cellular volume. CLC-KA is a kidney-specific chloride channel that mediates transepithelial chloride transport in the thin ascending limb of the Henle loop in the inner medulla. CLC-KA plays a crucial role in urine concentration. The gene encoding human CLC-KA maps to chromosome 1p36. Mutations in this gene may be associated with nephrogenic diabetes insipidus in those cases where mutations in the vasopressin V2 receptor and the AQP2 water channel are lacking. CLC-KB mediates basolateral chloride ion efflux in the thick ascending limb and in more distal nephron segments. The gene encoding human CLC-KB maps to chromosome 1p36. Mutations in this gene cause type III Barter’s syndrome which is characterized by renal salt-wasting and low blood pressure.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-11698R-A555
Lokale Artikelnummer:: BOSSBS-11698R-A555
Beschreibung:   Huntingtin yeast partner E is a 458 amino acid single-pass membrane protein. HYPE is thought to interact with Huntingtin, a protein which induces neurodegeneration when mutated. HYPE also contains two tetratricopeptide repeats (TPR), which may be involved in protein-protein interaction. The gene that encodes HYPE is located on chromosome 12, which encodes over 1,100 genes within 132 million bases and makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-6987R-A647
Lokale Artikelnummer:: BOSSBS-6987R-A647
Beschreibung:   C12orf23 (chromosome 12 open reading frame 23), also known as FLJ11721, FLJ13959 or MGC17943, is a 116 amino acid multi-pass membrane protein belonging to the UPF0444 family. C12orf23 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-6987R
Lokale Artikelnummer:: BOSSBS-6987R
Beschreibung:   C12orf23 (chromosome 12 open reading frame 23), also known as FLJ11721, FLJ13959 or MGC17943, is a 116 amino acid multi-pass membrane protein belonging to the UPF0444 family. C12orf23 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-13627R-A680
Lokale Artikelnummer:: BOSSBS-13627R-A680
Beschreibung:   The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport, and maintain cellular volume. CLC-KA is a kidney-specific chloride channel that mediates transepithelial chloride transport in the thin ascending limb of the Henle loop in the inner medulla. CLC-KA plays a crucial role in urine concentration. The gene encoding human CLC-KA maps to chromosome 1p36. Mutations in this gene may be associated with nephrogenic diabetes insipidus in those cases where mutations in the vasopressin V2 receptor and the AQP2 water channel are lacking. CLC-KB mediates basolateral chloride ion efflux in the thick ascending limb and in more distal nephron segments. The gene encoding human CLC-KB maps to chromosome 1p36. Mutations in this gene cause type III Barter?s syndrome which is characterized by renal salt-wasting and low blood pressure.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-11698R-A350
Lokale Artikelnummer:: BOSSBS-11698R-A350
Beschreibung:   Huntingtin yeast partner E is a 458 amino acid single-pass membrane protein. HYPE is thought to interact with Huntingtin, a protein which induces neurodegeneration when mutated. HYPE also contains two tetratricopeptide repeats (TPR), which may be involved in protein-protein interaction. The gene that encodes HYPE is located on chromosome 12, which encodes over 1,100 genes within 132 million bases and makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl
Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-2700R-A750
Lokale Artikelnummer:: BOSSBS-2700R-A750
Beschreibung:   Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterised by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-13217R-A647
Lokale Artikelnummer:: BOSSBS-13217R-A647
Beschreibung:   Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-13627R-A488
Lokale Artikelnummer:: BOSSBS-13627R-A488
Beschreibung:   The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport, and maintain cellular volume. CLC-KA is a kidney-specific chloride channel that mediates transepithelial chloride transport in the thin ascending limb of the Henle loop in the inner medulla. CLC-KA plays a crucial role in urine concentration. The gene encoding human CLC-KA maps to chromosome 1p36. Mutations in this gene may be associated with nephrogenic diabetes insipidus in those cases where mutations in the vasopressin V2 receptor and the AQP2 water channel are lacking. CLC-KB mediates basolateral chloride ion efflux in the thick ascending limb and in more distal nephron segments. The gene encoding human CLC-KB maps to chromosome 1p36. Mutations in this gene cause type III Barter’s syndrome which is characterized by renal salt-wasting and low blood pressure.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-13627R-A555
Lokale Artikelnummer:: BOSSBS-13627R-A555
Beschreibung:   The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport, and maintain cellular volume. CLC-KA is a kidney-specific chloride channel that mediates transepithelial chloride transport in the thin ascending limb of the Henle loop in the inner medulla. CLC-KA plays a crucial role in urine concentration. The gene encoding human CLC-KA maps to chromosome 1p36. Mutations in this gene may be associated with nephrogenic diabetes insipidus in those cases where mutations in the vasopressin V2 receptor and the AQP2 water channel are lacking. CLC-KB mediates basolateral chloride ion efflux in the thick ascending limb and in more distal nephron segments. The gene encoding human CLC-KB maps to chromosome 1p36. Mutations in this gene cause type III Barter’s syndrome which is characterized by renal salt-wasting and low blood pressure.
VE:  1 * 100 µl
Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-12335R-A750
Lokale Artikelnummer:: BOSSBS-12335R-A750
Beschreibung:   The features of hemochromatosis include cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, and heart failure. Since hemochromatosis is a relatively easily treated disorder if diagnosed, this is a form of preventable cancer. The HFE protein, which is defective in hereditary hemo-chromatosis, normally is expressed in crypt enterocytes of the duodenum where it has a unique, predominantly intracellular localisation. In placenta, the HFE protein co-localizes with and forms a stable association with the transferrin receptor (TfR), providing a link between the HFE protein and iron transport. Immunocytochemistry shows that the HFE protein and TfR both are expressed in the crypt enterocytes. Western blots show that, as is the case in human placenta, the HFE protein in crypt enterocytes is physically associated with the TfR and with 2-microglobulin. It is proposed that HFE has two mutually exclusive activities in cells: inhibition of uptake or inhibition of release of iron and that the balance between serum transferrin saturation and serum transferrin-receptor concentrations determines which of these functions predominates. The gene which encodes HFE maps to human chromosome 6p21.3.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-6987R-CY5.5
Lokale Artikelnummer:: BOSSBS-6987R-CY5.5
Beschreibung:   C12orf23 (chromosome 12 open reading frame 23), also known as FLJ11721, FLJ13959 or MGC17943, is a 116 amino acid multi-pass membrane protein belonging to the UPF0444 family. C12orf23 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl

Lieferant:  Bioss
Hersteller-Artikelnummer:: BS-6987R-A750
Lokale Artikelnummer:: BOSSBS-6987R-A750
Beschreibung:   C12orf23 (chromosome 12 open reading frame 23), also known as FLJ11721, FLJ13959 or MGC17943, is a 116 amino acid multi-pass membrane protein belonging to the UPF0444 family. C12orf23 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a number of skeletal deformities, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy.
VE:  1 * 100 µl
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