Aliases for TTC8 Gene
External Ids for TTC8 Gene
Previous GeneCards Identifiers for TTC8 Gene
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]
GeneCards Summary for TTC8 Gene
TTC8 (Tetratricopeptide Repeat Domain 8) is a Protein Coding gene. Diseases associated with TTC8 include Retinitis Pigmentosa 51 and Bardet-Biedl Syndrome 8. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include RNA polymerase II repressing transcription factor binding. An important paralog of this gene is BBS4.
UniProtKB/Swiss-Prot for TTC8 Gene
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.