WDR37
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
WD repeat-containing protein 37 is a protein that in humans is encoded by the WDR37 gene.[5][6][7]
External IDsMGI: 1920393; HomoloGene: 40914; GeneCards: WDR37; OMA:WDR37 - orthologs
| WDR37 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | WDR37, WD repeat domain 37, NOCGUS | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1920393; HomoloGene: 40914; GeneCards: WDR37; OMA:WDR37 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[7]
Clinical
Mutations in this gene have been linked to a number of lesions in humans.[8][9] These include
- Corneal opacity/Peters anomaly
- Coloboma
- Microcornea
- Cerebellar hypoplasia
- Epilepsy
- Dysmorphic facial features
- Variable skeletal, cardiac and genitourinary defects
- Significant neurological impairment with structural brain defects and seizures
- Poor feeding
- Poor post-natal growth
- Death in infancy