IFT140
| Intraflagellar transport 140 homolog (Chlamydomonas) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | IFT140 ; MZSDS; WDTC2; c305C8.4; c380F5.1; gs114 | ||||||||||
| External IDs | OMIM: 614620 HomoloGene: 40979 GeneCards: IFT140 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 9742 | 106633 | |||||||||
| Ensembl | ENSG00000187535 | ENSMUSG00000024169 | |||||||||
| UniProt | Q96RY7 | n/a | |||||||||
| RefSeq (mRNA) | NM_014714 | NM_134126 | |||||||||
| RefSeq (protein) | NP_055529 | NP_598887 | |||||||||
| Location (UCSC) | Chr 16: 1.56 – 1.66 Mb | Chr 17: 25.02 – 25.1 Mb | |||||||||
| PubMed search | |||||||||||
IFT140, Intraflagellar transport 140 homolog, is a protein that in humans is encoded by the IFT140 gene.
Clinical significance
Mutations in this gene have been associated to cases of skeletal ciliopathy.[1]
References
- ↑ Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C (May 2013). "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease". Hum. Mutat. 34 (5): 714–24. doi:10.1002/humu.22294. PMID 23418020.