TTC8 Back

tetratricopeptide repeat domain 8

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NCBI Description of TTC8
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized.

Community Annotation of TTC8 Add / Edit TTC8: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TTC8 is highly significantly mutated in
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TTC8 is significantly mutated in
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TTC8 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for TTC8