BIOSS INC
Artikel-Nr:
(BOSSBS-9018R-A488)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-9018R-A488
Lokale Artikelnummer::
BOSSBS-9018R-A488
Beschreibung:
Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-5597R-HRP)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-5597R-HRP
Lokale Artikelnummer::
BOSSBS-5597R-HRP
Beschreibung:
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013].
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-5959R-FITC)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-5959R-FITC
Lokale Artikelnummer::
BOSSBS-5959R-FITC
Beschreibung:
Part of the MIS12 complex, which may be fundamental for kinetochore formation and proper chromosome segregation during mitosis. Four known isoforms exist.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-11759R-A488)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-11759R-A488
Lokale Artikelnummer::
BOSSBS-11759R-A488
Beschreibung:
Atlastins are Golgi-localized, integral membrane proteins that function as GTPases. The Atlastin proteins, also designated SPG3A and guanylate-binding protein 3, comprise a Dynamin superfamily that plays a role in axonal maintenance. Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disorder that is characterized by retrograde axonal degeneration. HSP primarily affects long corticospinal neurons and causes spastic lower extremity weakness. Spastin, a microtubule (MT)-severing AAA ATPase, is a binding partner of Atlastin that is involved in membrane dynamics. This Spastin/Atlastin binding may be involved in the biochemical pathway that leads to HSP development. Mutations in the Atlastin gene (SPG3A) account for approximately 10% of all autosomal dominant HSPs, while mutations in the Spastin gene (SPG4) account for almost 40%.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-2917R-A555)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-2917R-A555
Lokale Artikelnummer::
BOSSBS-2917R-A555
Beschreibung:
This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature activation of zymogens within the pancreas.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-1168R-A488)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-1168R-A488
Lokale Artikelnummer::
BOSSBS-1168R-A488
Beschreibung:
High affinity receptor for the C-C type chemokines CCL17/TARC and CCL22/MDC. The activity of this receptor is mediated by G(i) proteins which activate a phosphatidylinositol-calcium second messenger system. Can function as a chemoattractant homing receptor on circulating memory lymphocytes and as a coreceptor for some primary HIV-2 isolates. In the CNS, could mediate hippocampal-neuron survival.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-11759R-HRP)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-11759R-HRP
Lokale Artikelnummer::
BOSSBS-11759R-HRP
Beschreibung:
Atlastins are Golgi-localized, integral membrane proteins that function as GTPases. The Atlastin proteins, also designated SPG3A and guanylate-binding protein 3, comprise a Dynamin superfamily that plays a role in axonal maintenance. Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disorder that is characterized by retrograde axonal degeneration. HSP primarily affects long corticospinal neurons and causes spastic lower extremity weakness. Spastin, a microtubule (MT)-severing AAA ATPase, is a binding partner of Atlastin that is involved in membrane dynamics. This Spastin/Atlastin binding may be involved in the biochemical pathway that leads to HSP development. Mutations in the Atlastin gene (SPG3A) account for approximately 10% of all autosomal dominant HSPs, while mutations in the Spastin gene (SPG4) account for almost 40%.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-4227R-CY3)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-4227R-CY3
Lokale Artikelnummer::
BOSSBS-4227R-CY3
Beschreibung:
VAPB contains 1 MSP domain and it may play a role in vesicle trafficking. Defects in VAPB are a cause of proximal adult autosomal dominant spinal muscular atrophy [MIM:182980]; also called late onset spinal muscular atrophy Finkel type. Spinal muscular atrophies are neurodegenerative disorders characterized by degeneration of lower motor neurons, leading to progressive paralysis muscular atrophy. This form is a late adult onset form of the disease (after age 20 years). The patients show a benign course, most of them remaining ambulatory 10 to 40 years after clinical onset.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-9487R-A350)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-9487R-A350
Lokale Artikelnummer::
BOSSBS-9487R-A350
Beschreibung:
LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-11612R-CY5)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-11612R-CY5
Lokale Artikelnummer::
BOSSBS-11612R-CY5
Beschreibung:
Growth hormone-releasing hormone (GHRH) stimulates secretion and synthesis of growth hormone (GH), causes somatotroph proliferation and may have direct actions in fetal/placental development, reproduction and immune function. It exerts its action through high-affinity GHRH receptors present in the anterior pituitary. GSH-1 (GS homeobox 1) is a 264 amino acid hypothalamic nuclear protein that functions as a transcription factor responsible for maintaining GHRH expression as well as playing an important role in pituitary development. Coexpression of CBP leads to significantly enhanced GSH-1-induced GHRH expression, which suggest that CBP may function as a co-activator. Knockdown of GSH-1 mRNA in mice causes a dwarf phenotype, which suggests that certain cases of familial dwarfism may be caused by a mutation of the GSH-1 gene.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-11733R-CY5)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-11733R-CY5
Lokale Artikelnummer::
BOSSBS-11733R-CY5
Beschreibung:
Myotubularin and the myotubularin-related proteins (MTMR1-9) belong to a highly conserved family of eukaryotic phosphatases. They are protein tyrosine phosphatases that utilize inositol phospholipids, rather than phosphoproteins, as substrates. MTMR family members hydrolyze both Phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2. MTMR2 interacts with MTMR5, an inactive family member that increases the enzymatic activity of MTMR2 and dictates its subcellular localization. Mutations in MTMR2 cause autosomal recessive Charcot-Marie-Tooth type 4B1 (CMT4B1), which is characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination. MTMR3 and MTMR4 can either interact with each other or self associate. MTMR6 regulates the activity of the calcium-activated potassium channel 3.1. MTMR9 regulates the activity of MTMR7 and MTMR8.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-11563R-HRP)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-11563R-HRP
Lokale Artikelnummer::
BOSSBS-11563R-HRP
Beschreibung:
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (survival of motor neuron) gene. Gemin3, also known as DP103, DDX20, DEAD-box protein DP130 and DEAD/H box 20, is a protein product of human chromosome 1p13.2. It associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin4, Gemin5 and Gemin6, as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. It is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (for Gemini of the coiled bodies). Gemin3 also interacts with SmB, SmD2 and SmD3. It contains the conserved motif Asp-Glu-Ala-Asp (DEAD) characteristic of DEAD-box proteins. Gemin3 is a putative RNA helicase and shows ATPase activity. It is expressed in B and T cell neuroblastoma-derived cell lines, malignant melanoma tumor, normal testis and is expressed in low levels in colon, skeletal muscle, liver, kidney and lung.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-11360R-CY3)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-11360R-CY3
Lokale Artikelnummer::
BOSSBS-11360R-CY3
Beschreibung:
Rim4 (Rab 3 interacting molecule 4), also known as Rim4 or regulating synaptic membrane exocytosis protein 4, is a 269 amino acid protein that localizes to the cell junction and regulates synaptic membrane exocytosis.Rab 3, a neural/neuroendocrine-specific member of the Rab family, is involved in Ca2+-regulated exocytosis. Rab 3 functions in an inhibitory capacity by controlling the recruitment of secretory vesicles into a releasable pool at the plasma membrane. Rim (Rab 3 interacting molecule), a putative effector protein for Rab 3 proteins, is thought to regulate neutrotransmitter release through its interaction with Rab 3 and other synaptic proteins.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-7874R-CY3)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-7874R-CY3
Lokale Artikelnummer::
BOSSBS-7874R-CY3
Beschreibung:
SART1 encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri snRNP to the pre spliceosome in the spliceosome assembly pathway.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-13296R-HRP)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-13296R-HRP
Lokale Artikelnummer::
BOSSBS-13296R-HRP
Beschreibung:
Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.
VE:
1 * 100 µl
Artikel-Nr:
(BOSSBS-12384R-FITC)
Lieferant:
Bioss
Hersteller-Artikelnummer::
BS-12384R-FITC
Lokale Artikelnummer::
BOSSBS-12384R-FITC
Beschreibung:
The Drosophila hairy and Enhancer of split genes encode basic helix-loop-helix (bHLH) transcriptional repressors that function in the Notch signaling pathway and control segmentation and neural development during embryogenesis. The mammalian homologues of Drosophila hairy and Enhancer of split are the HES gene family members, HES1-6, which also encode bHLH transcriptional repressors that regulate myogenesis and neurogenesis. The HES family members form a complex with TLE, the mammalian homologue of Groucho, and this interaction is mediated by the carboxy terminal WRPW motif of the HES proteins. The HES/TLE complex functions by directly binding to DNA, instead of interfering with activator proteins. Most HES family members, including HES1 and HES5, preferentially bind to the N box (CACNAG) as opposed to the E box (CANNTG). HES2 binds to both N and E box sites, while HES6 does not bind DNA. Rather, HES6 inhibits HES1 activity, thereby promoting transcription. HES1 and HES2 are expressed in a variety of adult and embryonic tissues. HES3 is expressed exclusively in cerebellar Purkinje cells, and HES5 is found solely in the nervous system. HES6 is produced in brain as well as in the limb buds of developing embryos.
VE:
1 * 100 µl
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