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. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013],
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Function:
similarity:Contains 7 WD repeats.,tissue specificity:Expressed in many tissues. Predominant expression in testis and pituitary.,
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Cellular Localization:
Cell projection, cilium . Cytoplasm, cytoskeleton, cilium basal body . Localizes to photoreceptor connecting cilia. .
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Tissue Expression:
Expressed in many tissues. Predominant expression in testis and pituitary.