Search
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:
a) retinitis pigmentosa type 51
b) Bardet-Biedl syndrome type 8
Related
Bardet-Biedl syndrome
General
tetratricopeptide repeat protein
Properties
SIZE: entity length = 541 aa
MW = 62 kD
COMPARTMENT: cytoplasm
MOTIF: tetratricopeptide repeat {14-47}
tetratricopeptide repeat {251-284}
tetratricopeptide repeat {285-317}
tetratricopeptide repeat {318-351}
tetratricopeptide repeat {352-385}
tetratricopeptide repeat {386-419}
tetratricopeptide repeat {423-456}
tetratricopeptide repeat {457-490}
Database Correlations
OMIM correlations
MORBIDMAP 608132
UniProt Q8TAM2
PFAM correlations
Entrez Gene 123016
Kegg hsa:123016
References
- UniProt :accession Q8TAM2
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TTC8
Component-of
BBsome complex