Category: Proteins & Peptides

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Reference: 320-0P

Rab7a ms rab7

Reference: 321-0P

VPS18 ms PEP 3, VPS 18, VPS18

Reference: GTX00305-pro

This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. The expression and activity of this gene is age-related but independent of growth hormone level. This gene is clustered with Ces7 and Ces3 on chromosome 8. [provided by RefSeq, Jun 21]

Reference: 354-0P

Pantophysin ms Synaptophysin-like protein 1

Reference: GTX00306-pro

This gene encodes a member of the glycosyl hydrolase 2 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mice lacking the encoded protein exhibit accumulation of gangliosides in the brain and membranous cytoplasmic bodies in neurons. Certain mutations in the human ortholog of this gene cause Tay-Sachs disease. [provided by RefSeq, Aug 216]

Reference: 368-0P

Kv7.3 rt Potassium channel, KCNQ3, KCNQ2, Kv7.2, Kv7.3

Reference: 368-1P

Kv7.2 ms Potassium channel, KCNQ3, KCNQ2, Kv7.2, Kv7.3

Reference: GTX00308-pro

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Homozygous knockout mice for this gene exhibit increased muscle mass and bone density, and reduced adiposity. [provided by RefSeq, Jul 216]

Reference: 373-0P

Numb ms Nb, Protein numb homolog

Reference: GTX00309-pro

This gene encodes a liver-specific mitochondrial enzyme that catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Regulated by glucocorticoid and polypeptide hormones, this genes expression is affected by deletion of a regulatory region near the albino locus on chromosome 7. Mutations in this gene cause tyrosinemia type II in humans. [provided by RefSeq, Mar 21]