WDR5 Chromosome 9

WD repeat domain 5
1 variant 1 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. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|ATAC complex|NSL histone acetyltransferase complex|Cilia and flagella associated|WRAD complex"
Locus Type
gene with protein product
Location
9q34.2
Ensembl
ENSG00000196363
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2539710078 Health Risk Pathogenic
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