WDR36 Chromosome 5
WD repeat domain 36
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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. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|UTPb subcomplex"
Locus Type
gene with protein product
Location
5q22.1
Ensembl
ENSG00000134987
Associated Conditions (4)
Glaucoma 1
open angle
G
Primary open angle glaucoma
Key Variants
RS118204022
Conflicting classifications of pathogenicity
Glaucoma 1, open angle, G
Health Risk
RS34661294
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Primary open angle glaucoma
Health Risk
RS35629723
Conflicting classifications of pathogenicity
Primary open angle glaucoma, Primary open angle glaucoma
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118204022 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 1, open angle, G |
| RS34661294 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Primary open angle glaucoma |
| RS35629723 | Health Risk | Conflicting classifications of pathogenicity | Primary open angle glaucoma, Primary open angle glaucoma |