tetratricopeptide repeat protein 8; TPR repeat protein 8; Bardet-Biedl syndrome 8 protein (TTC8, BBS8)

Function

• component of the BBsome complex
• interacts with PCM1

Structure

contains 8 TPR repeats

Compartment

• cytoplasm, cytoskeleton, centrosome
• cell projection, cilium membrane
• localizes to nonmembranous centriolar satellites in the cytoplasm

Alternative splicing

• named isoforms=5
• at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Expression

widely expressed

Pathology

• defects in TTC8 are the cause of:
  • retinitis pigmentosa type 51
  • Bardet-Biedl syndrome type 8

More general terms

• tetratricopeptide repeat protein

Additional terms

• Bardet-Biedl syndrome

Component of

• BBsome complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=123016
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:123016
• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/608132
• OMIM: https://mirror.omim.org/entry/613464
• UniProt: http://www.uniprot.org/uniprot/Q8TAM2.html