Full name: tetratricopeptide repeat domain 8

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BBS8; RP51

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]

Expression: Broad expression in ovary (RPKM 24.2), adrenal (RPKM 16.1) and 24 other tissues

Gene size: 56927bp

Exon count: 18