Gene Symbol | WDR60 |
Entrez Gene ID | 55112 |
Full Name | WD repeat domain 60 |
Synonyms | FAP163,SRPS6,SRTD8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3) |