Gene: IFT43

Alternate names for this Gene: C14orf179|CED3|RP81|SRTD18

Gene Summary: This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: intraflagellar transport 43

Type of Gene: protein-coding

rs9323624 in IFT43 gene and Angioedema PMID 24236485 2013 Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.

rs140366557 in IFT43 gene and RETINITIS PIGMENTOSA 81 PMID 28973684 2017 A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

rs9323624 in IFT43 gene and Urticaria PMID 24236485 2013 Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.