{"symbol":"TTC8","synonyms":["RP51","BBS8"],"name":"tetratricopeptide repeat domain 8","description":"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]","ncbiEntrezGeneId":123016,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/123016","proteins":[{"symbol":"TTC8_HUMAN","href":"/api/1.0/protein/TTC8_HUMAN"}],"hgncRootFamilies":[{"name":"Tetratricopeptide repeat domain containing (TTC)","href":"/api/1.0/gene_family/Tetratricopeptide+repeat+domain+containing+%28TTC%29"}]}