WDR26
Protein-coding gene in the species Homo sapiens
01Function
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.
02Clinical significance
Pathogenic variants of the gene cause Skraban-Deardorff syndrome.
Sources and credits
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Images, from Wikimedia Commons:
- Ideogram human chromosome 1.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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