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Beschreibung:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF135 (RING finger protein 135), also known as L13, is a 432 amino acid protein that contains one RING-type zinc finger and one SPRY domain. Via its RING-type zinc finger, RNF135 may play a role in transcriptional regulation and protein degradation events. Defects in the gene encoding RNF135 are the cause of RNF135-related overgrowth syndrome which is characterized by learning disabilities, facial dysmorphism and increased weight and height. Multiple isoforms of RNF135 exist due to alternative splicing events.
Beschreibung:
During development, genetically distinct subtypes of motor neurons express unique combinations of LIM-type homeodomain factors, which regulate cell migration and guide motor axons to establish the fidelity of a binary choice in axonal trajectory. The LIM gene family encodes a set of gene products, which carry the LIM domain, a unique cysteine-rich zinc-binding domain. At least 40 members of this family have been identified in vertebrates and invertebrates, and are distributed into 4 groups according to the number of LIM domains and to the presence of homeodomains and kinase domains. The human LHX5 gene maps to chromosome 12q23-q24 and encodes a 402 amino acid protein. The hippocampus contains the neural circuitry, which is crucial for cognitive functions such as learning and memory. LHX5 regulates precursor cell proliferation and neuronal differentiation and migration during hippocampal development.
Beschreibung:
Tripartite motif-containing protein 32 (TRIM32) belongs to the tripartite motif (TRIM) protein family. TRIM32, like all TRIM proteins, contains a domain structure composed of a B-box, a RING-finger and a coiled-coil motif. Additionally, TRIM32 has six C-terminal NHL domains; it is expressed mainly in the skeletal muscle. The TRIM32 gene encodes an E3 ubiquitin ligase, a protein that attaches ubiquitin to a lysine residue on a target protein and acts in conjunction with ubiquitin-conjugating enzymes UbcH5a, UbcH5c and UbcH6. Mutations in the TRIM32 gene cause two forms of autosomal recessive muscular dystrophy designated limb girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy (STM). TRIM32 mutations can also result in Bardet-Biedl syndrome (BBS), an autosomal recessive disorder characterized by pigmentary retinopathy, polydactyly, hypogenitalism, renal abnormalities, learning disabilities and obesity.
Beschreibung:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Beschreibung:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterised by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Beschreibung:
Cysteine-rich secretory proteins (CRISPs) represent a family of evolutionarily conserved proteins that may play a role in the innate immune system and are transcriptionally regulated by androgens in several tissues. GAPR-1 (Golgi-associated plant pathogenesis-related protein 1), also known as GLIPR2, is a 154 amino acid lipid anchor protein belonging to the CRISP family. GAPR-1 also shares similarity with the pathogenesis-related protein (PR) superfamily, and may play an important role in the immune system. Existing as a homodimer, GAPR-1 is highly expressed in lung and peripheral leukocytes with minor expression in liver and kidney. Containing a conserved sperm-coating protein (SCP) domain, GAPR-1 binds to negatively charged lipids and may be involved in the differentiation of epithelial cells into mesenchymal cells. Increased expression of GAPR-1 in kidney may contribute to the development of fibrosis.
Beschreibung:
Cysteine-rich secretory proteins (CRISPs) represent a family of evolutionarily conserved proteins that may play a role in the innate immune system and are transcriptionally regulated by androgens in several tissues. GAPR-1 (Golgi-associated plant pathogenesis-related protein 1), also known as GLIPR2, is a 154 amino acid lipid anchor protein belonging to the CRISP family. GAPR-1 also shares similarity with the pathogenesis-related protein (PR) superfamily, and may play an important role in the immune system. Existing as a homodimer, GAPR-1 is highly expressed in lung and peripheral leukocytes with minor expression in liver and kidney. Containing a conserved sperm-coating protein (SCP) domain, GAPR-1 binds to negatively charged lipids and may be involved in the differentiation of epithelial cells into mesenchymal cells. Increased expression of GAPR-1 in kidney may contribute to the development of fibrosis.
Beschreibung:
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localised, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene.
Beschreibung:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Beschreibung:
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Beschreibung:
Das Epoxy Embedding Medium Kit ist ein sehr weit verbreitetes Einbettungsmedium für die Elektronenmikroskopie. Die ursprünglich von Luft (1961) veröffentlichte Einbettungsformulierung eignet sich hervorragend für pflanzliches und tierisches Gewebe. Aufgrund der geringen Viskosität des Harzes dringt es schneller in die Gewebeprobe ein als Araldite und andere Polymere. Es härtet bei niedrigen Temperaturen leicht und gleichmäßig aus, wenn Dodecenylbernsteinsäureanhydrid (DDSA), Methylnadicanhydrid (MNA) und der Beschleuniger 2,4,6-Tris(dimethylaminomethyl)phenol (DMP-30) zugegeben werden. Während der Aushärtung kann es zu einer leichten Schrumpfung kommen. Dieses Kit ist zum Einbetten einer Vielzahl von Geweben geeignet, da mit diesem Harz durch die Verwendung von zwei verschiedenen Anhydridhärtungsmitteln (DDSA und MNA) ein breites Härtespektrum für einen bestimmten Gewebetyp erreicht werden kann.
Beschreibung:
During development, genetically distinct subtypes of motor neurons express unique combinations of LIM-type homeodomain factors, which regulate cell migration and guide motor axons to establish the fidelity of a binary choice in axonal trajectory. The LIM gene family encodes a set of gene products, which carry the LIM domain, a unique cysteine-rich zinc-binding domain. At least 40 members of this family have been identified in vertebrates and invertebrates, and are distributed into 4 groups according to the number of LIM domains and to the presence of homeodomains and kinase domains. The human LHX5 gene maps to chromosome 12q23-q24 and encodes a 402 amino acid protein. The hippocampus contains the neural circuitry, which is crucial for cognitive functions such as learning and memory. LHX5 regulates precursor cell proliferation and neuronal differentiation and migration during hippocampal development.
Beschreibung:
During development, genetically distinct subtypes of motor neurons express unique combinations of LIM-type homeodomain factors, which regulate cell migration and guide motor axons to establish the fidelity of a binary choice in axonal trajectory. The LIM gene family encodes a set of gene products, which carry the LIM domain, a unique cysteine-rich zinc-binding domain. At least 40 members of this family have been identified in vertebrates and invertebrates, and are distributed into 4 groups according to the number of LIM domains and to the presence of homeodomains and kinase domains. The human LHX5 gene maps to chromosome 12q23-q24 and encodes a 402 amino acid protein. The hippocampus contains the neural circuitry, which is crucial for cognitive functions such as learning and memory. LHX5 regulates precursor cell proliferation and neuronal differentiation and migration during hippocampal development.
Beschreibung:
Tripartite motif-containing protein 32 (TRIM32) belongs to the tripartite motif (TRIM) protein family. TRIM32, like all TRIM proteins, contains a domain structure composed of a B-box, a RING-finger and a coiled-coil motif. Additionally, TRIM32 has six C-terminal NHL domains; it is expressed mainly in the skeletal muscle. The TRIM32 gene encodes an E3 ubiquitin ligase, a protein that attaches ubiquitin to a lysine residue on a target protein and acts in conjunction with ubiquitin-conjugating enzymes UbcH5a, UbcH5c and UbcH6. Mutations in the TRIM32 gene cause two forms of autosomal recessive muscular dystrophy designated limb girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy (STM). TRIM32 mutations can also result in Bardet-Biedl syndrome (BBS), an autosomal recessive disorder characterized by pigmentary retinopathy, polydactyly, hypogenitalism, renal abnormalities, learning disabilities and obesity.
Beschreibung:
Tripartite motif-containing protein 32 (TRIM32) belongs to the tripartite motif (TRIM) protein family. TRIM32, like all TRIM proteins, contains a domain structure composed of a B-box, a RING-finger and a coiled-coil motif. Additionally, TRIM32 has six C-terminal NHL domains; it is expressed mainly in the skeletal muscle. The TRIM32 gene encodes an E3 ubiquitin ligase, a protein that attaches ubiquitin to a lysine residue on a target protein and acts in conjunction with ubiquitin-conjugating enzymes UbcH5a, UbcH5c and UbcH6. Mutations in the TRIM32 gene cause two forms of autosomal recessive muscular dystrophy designated limb girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy (STM). TRIM32 mutations can also result in Bardet-Biedl syndrome (BBS), an autosomal recessive disorder characterized by pigmentary retinopathy, polydactyly, hypogenitalism, renal abnormalities, learning disabilities and obesity.
Beschreibung:
Cysteine-rich secretory proteins (CRISPs) represent a family of evolutionarily conserved proteins that may play a role in the innate immune system and are transcriptionally regulated by androgens in several tissues. GAPR-1 (Golgi-associated plant pathogenesis-related protein 1), also known as GLIPR2, is a 154 amino acid lipid anchor protein belonging to the CRISP family. GAPR-1 also shares similarity with the pathogenesis-related protein (PR) superfamily, and may play an important role in the immune system. Existing as a homodimer, GAPR-1 is highly expressed in lung and peripheral leukocytes with minor expression in liver and kidney. Containing a conserved sperm-coating protein (SCP) domain, GAPR-1 binds to negatively charged lipids and may be involved in the differentiation of epithelial cells into mesenchymal cells. Increased expression of GAPR-1 in kidney may contribute to the development of fibrosis.
VE:
1 * 100 µl
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,BOSSBS-8411R-CY3EA
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