Gene: IFT81

Alternate names for this Gene: CDV-1|CDV-1R|CDV1|CDV1R|DV1|SRTD19

Gene Summary: The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: intraflagellar transport 81

Type of Gene: protein-coding

rs7300001 in IFT81 gene and Headache PMID 29397368 2018 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773).

rs12313068 in IFT81 gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs200335504 in IFT81 gene and SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY PMID 27666822 2016 Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.