Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TTC8 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID123016
Official gene symbolTTC8
Full nametetratricopeptide repeat domain 8
Aliases,BBS8,
Gene summaryThis 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]
LocationChromosome: 14   Locus: 14q31.3
Gene position89290978 - 89344335  Map Viewer
Gene orientationplus
Gene size53358 bp
Gene sequence
OMIM ID608132