Family

Tetratricopeptide repeat protein 8 (IPR028796)

Short name: BBS8

Family relationships

None.

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 [PMID: 17574030]. The ciliary trafficking function of the BBSome is regulated by LZTFL1 (Leucine-zipper transcription factor-like 1) [PMID: 22072986].

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 [PMID: 18334641]. 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) [PMID: 20451172].

GO terms

Biological Process

GO:1905515 non-motile cilium assembly

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0034464 BBSome

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER