Entrez gene ID | | 123016 |
Official gene symbol | | TTC8 |
Full name | | tetratricopeptide repeat domain 8 |
Aliases | | ,BBS8, |
Gene 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. Alternate transcriptional splice variants have been characterized. [provided by RefSeq] |
Location | | Chromosome: 14 Locus: 14q31.3 |
Gene position | | 89290978 - 89344335 Map Viewer |
Gene orientation | | plus |
Gene size | | 53358 bp |
Gene sequence |
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OMIM ID | | 608132 |
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