ASIP Chromosome 20
Agouti signaling protein
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What This Gene Does
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 (2)
SKIN/HAIR/EYE PIGMENTATION 9
DARK/LIGHT HAIR
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS6058017 | Health Risk | association | SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR, SKIN/HAIR/EYE PIGMENTATION 9 |