Entrez 123016 | Ensembl ENSG00000165533 | |
Aliases TTC8, BBS8, RP51, tetratricopeptide repeat domain 8 External IDs MGI: 1923510 HomoloGene: 14988 GeneCards: TTC8 | ||
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet-Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.
Contents
Function
TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is involved in centriolar replication during ciliogenesis.
TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.
Clinical significance
Mutations in the TTC8 gene is one of 14 genes identified as causal for Bardet-Biedl syndrome.
References
TTC8 Wikipedia(Text) CC BY-SA