Intraflagellar transport protein 172 homolog
The IFT172 gene encodes a ciliary protein that is responsible for intraflagellar transport. Mutations cause various recessive ciliopathies such as Short-rib thoracic dysplasia with or without polydactyly 10, and Nephronophthisis 17.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Hirosawa M et al. (1999) Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.
|
2. |
Halbritter J et al. (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
|
3. |
Howard PW et al. (2000) Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors.
|
4. |
Huangfu D et al. (2003) Hedgehog signalling in the mouse requires intraflagellar transport proteins.
|
5. |
Bujakowska KM et al. (2015) Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
|
6. |
Orphanet article
Orphanet ID 371219
|
7. |
NCBI article
NCBI 26160
|
8. |
OMIM.ORG article
Omim 607386
|
Update: Aug. 14, 2020