Gene Symbol | TTC8 |
Entrez Gene ID | 123016 |
Full Name | tetratricopeptide repeat domain 8 |
Synonyms | BBS8,RP51 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. |
Disorder MIM: | |
Disorder Html: | Bardet-Biedl syndrome 8, 615985 (3); ?Retinitis pigmentosa 51, 613464 (3) |