| Primary Identifier | IPR028796 | Type | Family |
| Short Name | BBS8 |
| description | Tetratricopeptide repeat protein 8 (TTC8, also known as BBS8) is part of the BBSome complex (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10), which is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia []. The ciliary trafficking function of the BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [].Primary cilia are ubiquitous cellular appendages that provide important sensory and signalling functions and their dysfunction underlies numerous human genetic disorders. The proteins disrupted in the human ciliary disorder Bardet-Biedl syndrome (BBS) are required for the localisation of G protein-coupled receptors to primary cilia on central neurons. The alteration of signalling caused by mislocalisation of ciliary signalling proteins underlies the BBS phenotype []. BBS8 is one of the genes involved in BBS. A splice-site mutation in TTC8/BBS8 is also known to cause nonsyndromic retinitis pigmentosa (RP) []. |
