TTC8
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Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet-Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.[1]
Function
TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome.[1] PCM1 in turn is involved in centriolar replication during ciliogenesis.[2]
TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.[1]
Clinical significance
Mutations in the TTC8 gene is one of 14 genes[3] identified as causal for Bardet-Biedl syndrome.[1][4]
References
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External links
- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome a
- TTC8 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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