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Description:
C10orf4, also known as FRA10A or FRA10AC1, is a 315 amino acid nuclear protein that is expressed strongly in kidney, liver, heart, brain and skeletal muscle. Defects in the gene encoding C10orf4 are characterised by an expansion of a polymorphic CGG repeat within the 5'-UTR of the gene; an event that is thought to cause folate-sensitive fragile site FRA10A expression. Expression of this mutated FRA10A protein may be associated with tumourigenesis, neurological disorders and mental retardation. C10orf4 is believed to be conserved between species. Five isoforms of C10orf4, all of which differ in their C-termini, are expressed due to alternative splicing events.
Description:
Voltage-dependent calcium channels are essential for the release of neurotransmitters. L-type (long lasting current) voltage-dependent calcium channels are composed of four subunits: an Alpha1 subunit, a Beta subunit, a Beta subunit and an Alpha2 Gamma subunit. The Beta subunit is encoded by four genes, designated Beta1-Beta 4, all of which contribute to the diversity of calcium currents and are involved in membrane trafficking of the Beta subunit. L-type Ca++ CP Beta 4, also known as CACNB4 (Calcium channel voltage-dependent subunit beta 4), CACNLB4 or CAB4, is a 484 amino acid protein that contains one SH3 domain and is expressed in ovary, brain and smooth muscle. Functioning as one of the four components of the Beta subunit, L-type Ca++ CP Beta 4 increases the peak calcium current in voltage-dependent calcium channels, thereby shifting the voltage dependencies of activation and inactivation and controlling G protein inhibition and Beta membrane targeting. Two isoforms of L-type Ca++ CP Beta4 exist due to alternative splicing events.
Description:
Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.
Description:
PDHX is component X of the pyruvate dehydrogenase (PDH) complex.It is required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. PDHX is expressed in the mithochondrion.
Description:
C2orf55, also known as MGC42367, is a 962 amino acid protein that is encoded by a gene located on human chromosome 2q11.2. The second largest human chromosome, chromosome 2 consists of 237 million bases, encodes over 1400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
Description:
Catalyses the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.
Description:
PLEKHJ1 is a 149 amino acid phosphoprotein that contains one PH (pleckstrin homology) domain and is expressed in testis and liver. The gene that encodes PLEKHJ1 maps to human chromosome 19, which consists of approximately 63 million bases and makes up over 2% of human genomic DNA. Chromosome 19 contains the greatest gene density of the human chromosomes and is the genetic home for a number of immunoglobulin superfamily members, including killer cell and leukocyte Ig-like receptors, ICAMs, the CEACAM and PSG families, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes are also linked to chromosome 19.
Description:
Putative transcription factor. May be implicated in specification and differentiation of neuronal cell lineages in the brain. May participate in kidney development and may be involved in podocyte differentiation.
Description:
PLEKHJ1 is a 149 amino acid phosphoprotein that contains one PH (pleckstrin homology) domain and is expressed in testis and liver. The gene that encodes PLEKHJ1 maps to human chromosome 19, which consists of approximately 63 million bases and makes up over 2% of human genomic DNA. Chromosome 19 contains the greatest gene density of the human chromosomes and is the genetic home for a number of immunoglobulin superfamily members, including killer cell and leukocyte Ig-like receptors, ICAMs, the CEACAM and PSG families, and Fc?receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes are also linked to chromosome 19.
Description:
Participates in antiviral signaling. Acts as a negative regulator of MAVS-mediated antiviral responses, through the inhibition of the virus-induced RLH (RIG-like helicase)-MAVS interaction (PubMed:18200010). Has no inhibitory function on NF-Kappa-B and type 1 interferon signaling pathways, but enhances NF-Kappa-B and JUN N-terminal kinase dependent signaling through the production of reactive oxygen species (PubMed:18219313).
Description:
Osteocalcin belongs to the osteocalcin/matrix Gla protein family and constitutes 1 to 2% of the total bone protein. It is a 49 amino acid single chain vitamin K dependent protein, made by osteoblasts, and is a major component of the noncollagenous bone matrix. Post translational modification by a vitamin K dependent carboxylase produces three gamma carboxyglutamic acid residues at positions 17, 21 and 24, giving it a high affinity for calcium. It also binds strongly to apatite.
Description:
Glutamate receptors mediate most excitatory neurotransmission in the brain and play an important role in neural plasticity, neural development and neurodegeneration. Ionotropic glutamate receptors are categorized into NMDA receptors and kainate/AMPA receptors, both of which contain glutamate-gated, cation-specific ion channels. Synaptic and extrasynaptic NMDA receptors have been shown to have opposite effects on neuronal survival, CREB function and gene regulation. As one of the four major proteins of the NMDA receptor ion channel, GRINA (Glutamate [NMDA] receptor-associated protein 1), also designated NMDA receptor glutamate-binding subunit or putative MAPK-activating protein PM02, is a 371 amino acid multi-pass transmembrane protein. Due to the chromosomal location of the gene encoding GRINA, studies have linked possible GRINA involvement with a form of idiopathic generalized epilepsy.
Description:
Protein kinases are enzymes that transfer a phosphate group from a phosphate donor onto an acceptor amino acid in a substrate protein. By this basic mechanism, protein kinases mediate most of the signal transduction in eukaryotic cells, regulating cellular metabolism, transcription, cell cycle progression, cytoskeletal rearrangement and cell movement, apoptosis, and differentiation. The protein kinase family is one of the largest families of proteins in eukaryotes, classified in 8 major groups based on sequence comparison of their tyrosine (PTK) or serine/threonine (STK) kinase catalytic domains. Epidermal Growth factor receptor (EGFR) is the prototype member of the type 1 receptor tyrosine kinases. EGFR overexpression in tumors indicates poor prognosis and is observed in tumors of the head and neck, brain, bladder, stomach, breast, lung, endometrium, cervix, vulva, ovary, esophagus, stomach and in squamous cell carcinoma.
UOM:
1 * 100 µl
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