WDR35 (Entrez ID: 57539)

Entrez Gene ID 57539
Official Gene Symbol WDR35 (GeneCards)
Full name WD repeat domain 35
Location 2p24.1
Other ids Vega : OTTHUMG00000090737
MIM : 613602
HGNC : HGNC:29250
Ensembl : ENSG00000118965
Other names CED2, IFTA1, SRTD7, IFT121
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]

Variants

Found 2 variants in this database.