IFT122, Official Symbol IFT122provided by HGNC Official Full Name intraflagellar transport 122provided by HGNC Primary source HGNC:HGNC:13556 See related Ensembl:ENSG00000163913 MIM:606045; AllianceGenome:HGNC:13556 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CED; SPG; CED1; FAP80; WDR10; CFAP80; WDR10p; WDR140 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. 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] Expression Broad expression in testis (RPKM 41.7), ovary (RPKM 7.5) and 15 other tissues See more Orthologs mouse all