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]
Function
protein binding;
Synonyms
TTC8; tetratricopeptide repeat domain 8; tetratricopeptide repeat protein 8; BBS8; TPR repeat protein 8; Bardet-Biedl syndrome type 8; bardet-Biedl syndrome 8 protein; RP51;
Citations
Publication ()
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