{"symbol":"IFT122","synonyms":["CED1","WDR10","WDR10P","WDR140"],"name":"intraflagellar transport 122","description":"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]","ncbiEntrezGeneId":55764,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55764","proteins":[{"symbol":"IF122_HUMAN","href":"/api/1.0/protein/IF122_HUMAN"}],"hgncRootFamilies":[{"name":"Intraflagellar transport proteins (IFT)","href":"/api/1.0/gene_family/Intraflagellar+transport+proteins+%28IFT%29"},{"name":"WD repeat domain containing (WDR)","href":"/api/1.0/gene_family/WD+repeat+domain+containing+%28WDR%29"}]}