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]
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
[edit | edit source]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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Further reading
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External links
[edit | edit source]- GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome a
- TTC8 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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