TTC8

Also known as BBS8, RP51, tetratricopeptide repeat domain 8

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.

Gene data

TTC8

Name: tetratricopeptide repeat domain 8
Type: protein-coding
Position: 88,824,153–88,881,078 (+)
Aliases: BBS8, RP51
Ensembl: ENSG00000165533
RefSeq RNA: NM_001288781.1, NM_001288782.1, NM_001288783.1, NM_001366535.2, NM_001366536.2
RefSeq protein: NP_001275710.1, NP_001275711.1, NP_001275712.1, NP_001353464.1, NP_001353465.1

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].

Gene Ontology

Biological process

sensory perception

Article

5 sections

Contents

[[Functional magnetic resonance imaging|Function]]
Clinical significance
References
Further reading
External links

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.

== Function == TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is involved in centriolar replication during ciliogenesis.