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Description:
Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.
Description:
The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene.
Description:
FMR2 is a 1311 amino acid nuclear protein belonging to the AF4 family. Expressed in the brain, placenta and lung, FMR2 exists as two isoforms produced by alternative splicing. Defects in the gene that encodes FMR2 have been found to be a cause of FRAXE, an X-linked form of mental retardation. Individuals expressing the FRAXE site also have more than two-hundred copies of a GCC repeat adjacent to CpG island, compared to six to thirty-five copies of the GCC repeat in a normal individual. It is believed that loss of FMR2 expression causes this GCC expansion of the FRAXE site.
Description:
Kallikrein 11 has two alternative splicing isoforms, known as the brain type and prostate type. Elevated serum levels of hK11 have been found in 70% of women with ovarian cancer and in 60% of men with prostate cancer. Analysis of this biomarker in serum may aid in the diagnosis and monitoring of ovarian and prostatic carcinoma.
Description:
The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012].
Description:
Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation-induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages.
Description:
The aldo-keto reductase 7 (AKR7) family includes AKR7A2, AKR7A3 and AKR7A4 in human, AKR7A5 in mouse and AKR7A2 in rat, all of which function in the metabolism of aflatoxin B(1) and other dicarbonyl-containing compounds. More specifically, AKR7A proteins are involved in the metabolism of compounds with ketone groups on adjacent carbon atoms in a broad range of tissues, notably the liver. The human AKR7A2 gene maps to human chromosome 1p35-36, a region frequently deleted in sporadic colorectal cancer. The functional significance of this correlation lies in the constitutive expression of AKR7A2 in human liver to eliminate aflatoxin (an environmental carcinogen), thus acting as an endogenous chemo-preventative agent.
Description:
This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene
Description:
Kallikrein 11 has two alternative splicing isoforms, known as the brain type and prostate type. Elevated serum levels of hK11 have been found in 70% of women with ovarian cancer and in 60% of men with prostate cancer. Analysis of this biomarker in serum may aid in the diagnosis and monitoring of ovarian and prostatic carcinoma.
Description:
NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. This protein plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. It mediates neuronal functions in glutamate neurotransmission. Is involved in the cell surface targeting of NMDA receptors (By similarity).
Description:
Germ cell nuclear factor (GCNF) is an orphan member of the nuclear receptor gene superfamily that influences neurogenesis and germ cell development. GCNF can homodimerize and bind DNA. GCNF regulates paracrine interaction between the oocyte and somatic cells by regulating the expression of BMP-15 and GDF-9, to affect female fertility. GCNF is present in spermatocytes and round spermatids of adult male mouse testis; northern blot and ribonuclease protection assays have shown GCNF is predominant in the testis. The gene expresses three alternatively spliced transcript variants.
Description:
Subunit of both mTORC1 and mTORC2, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino-acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino-acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation.Tissue specificity:Broadly expressed, with highest levels in skeletal muscle, heart and kidney.
Description:
Zic2 is a C2H2 zinc finger transcription factor that influences forebrain development. Zic2 is a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Zic2 transcript is abundant in the dorsal neural tube/spinal cord, and in the hindbrain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13.
Description:
Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.
Description:
Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system.
UOM:
1 * 100 µl
Promotion
,BOSSBS-3907R-CY3EA
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