Full name: WD repeat domain 35

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7

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]

Expression: Broad expression in testis (RPKM 8.4), thyroid (RPKM 5.2) and 24 other tissues

Gene size: 79843bp

Exon count: 29