Gene: IFT122

Alternate names for this Gene: CED|CED1|FAP80|SPG|WDR10|WDR10p|WDR140

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3-q22.1

Description of this Gene: intraflagellar transport 122

Type of Gene: protein-coding

rs1224050823 in IFT122 gene and CRANIOECTODERMAL DYSPLASIA 1 PMID 26792575 2016 Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

PMID 24689072 2014 Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

PMID 23826986 2014 Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

PMID 29220510 2018 Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.

PMID 20493458 2010 Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

rs146167147 in IFT122 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.