WDR36

Chr 5

WD repeat domain 36

Also known as: GLC1G, TA-WDRP, TAWDRP, UTP21

NCBI Gene: 134430 ENSG00000134987 UniProt: Q8NI36

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]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGlaucoma 1, open angle, G

Clinical highlights

Gene-disease validity (ClinGen)

obsolete glaucoma 1, open angle, G · ADDisputedevidence questions this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.47

LOEUF

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Mechanism

Some data sources returned errors (1)

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