WDR13 Chromosome X

WD repeat domain 13
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. A similar protein in mouse is thought to be a negative regulator of the pancreatic beta cell proliferation. Mice lacking this gene exhibit increased pancreatic islet mass and higher serum insulin levels, and are mildly obese. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000101940
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS143365075 Health Risk Conflicting classifications of pathogenicity
RS201415075 Health Risk Conflicting classifications of pathogenicity
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