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ASIP agouti signaling protein

Gene ID: 434, updated on 8-Dec-2018
Also known as: ASP; AGSW; AGTI; AGTIL; SHEP9

Summary

In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Skin/hair/eye pigmentation, variation in, 9
MedGen: C2673200OMIM: 611742GeneReviews: Not available
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Genomic context

Location:
20q11.22
Sequence:
Chromosome: 20; NC_000020.11 (34186493..34269344)
Total number of exons:
7

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