TTC8, Official Symbol TTC8provided by HGNC Official Full Name tetratricopeptide repeat domain 8provided by HGNC Primary source HGNC:HGNC:20087 See related Ensembl:ENSG00000165533 MIM:608132; AllianceGenome:HGNC:20087 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all