Aliases for IFT122 Gene
External Ids for IFT122 Gene
Previous HGNC Symbols for IFT122 Gene
Previous GeneCards Identifiers for IFT122 Gene
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]
GeneCards Summary for IFT122 Gene
IFT122 (Intraflagellar Transport 122) is a Protein Coding gene. Diseases associated with IFT122 include Cranioectodermal Dysplasia 1 and Short-Rib Thoracic Dysplasia 12. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance.
UniProtKB/Swiss-Prot for IFT122 Gene
Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).