WDR37
Template:Short description Template:Infobox gene WD repeat-containing protein 37 is a protein that in humans is encoded by the WDR37 gene.[1][2][3]
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.[3]
Clinical
Mutations in this gene have been linked to a number of lesions in humans.[4][5] 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
References
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- ↑ Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV (2019) De novo missense variants in WDR37 cause a severe multisystemic syndrome. Am J Hum Genet
- ↑ Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV (2019) De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia. Am J Hum Genet
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Further reading
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