Gene: IFT80

Alternate names for this Gene: ATD2|FAP167|SRTD2|WDR56

Gene Summary: The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.33

Description of this Gene: intraflagellar transport 80

Type of Gene: protein-coding

Gene: TRIM59-IFT80

Alternate names for this Gene: IFT80-L

Gene Summary: This locus represents naturally occurring readthrough transcription between the neighboring TRIM59 (tripartite motif containing 59) and IFT80 (intraflagellar transport 80) genes on chromosome 3. The readthrough transcript is unlikely to produce a protein product.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.33

Description of this Gene: TRIM59-IFT80 protein

Type of Gene: ncRNA

rs137853115 in IFT80;TRIM59-IFT80 gene and Asphyxiating Thoracic Dystrophy 2 PMID 17468754 2007 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.