Gene Symbol | WDR35 |
Entrez Gene ID | 57539 |
Full Name | WD repeat domain 35 |
Synonyms | CED2,IFT121,IFTA1,SRTD7 |
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), 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]. |
Disorder MIM: | |
Disorder Html: | Cranioectodermal dysplasia 2, 613610 (3); Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) |