IFT88 Chromosome 13
Intraflagellar transport 88
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What This Gene Does
This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|IFT-B1 complex"
Locus Type
gene with protein product
Location
13q12.11
Ensembl
ENSG00000032742
Associated Conditions (2)
Rod-cone dystrophy
Jeune thoracic dystrophy
Key Variants
RS1594100988
Conflicting classifications of pathogenicity
Rod-cone dystrophy, Rod-cone dystrophy
Health Risk
RS373832683
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Jeune thoracic dystrophy
Health Risk
RS566137469
Conflicting classifications of pathogenicity
Health Risk
RS777984685
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1594100988 | Health Risk | Conflicting classifications of pathogenicity | Rod-cone dystrophy, Rod-cone dystrophy |
| RS373832683 | Health Risk | Conflicting classifications of pathogenicity | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS566137469 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777984685 | Health Risk | Conflicting classifications of pathogenicity | — |