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IFT122 / WDR10 is 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.
Gene Name: | intraflagellar transport 122 homolog (Chlamydomonas) |
Synonyms: | IFT122, CED, SPG, WDR10, WDR140, WDR10p, WD repeat domain 10, CED1 |
Target Sequences: | NM_018262 NP_060732.2 Q9HBG6 |
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