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 anatomical structure morphogenesis fat cell differentiation establishment of anatomical structure orientation sensory processing cilium assembly cilium assembly cilium assembly

Molecular function

protein binding RNA polymerase II-specific DNA-binding transcription factor binding

Cellular component

cytoplasm mitochondrion centrosome centrosome cytosol cilium cilium membrane

Pathways

Organelle biogenesis and maintenance Cilium Assembly Cargo trafficking to the periciliary membrane BBSome-mediated cargo-targeting to cilium Assembly of the 9+0 primary cilium Ciliary landscape Genes related to primary cilium development (based on CRISPR)Joubert Syndrome Ciliopathies

via MyGene.info

Gene · Ensembl

tetratricopeptide repeat domain 8

Symbol: TTC8
Biotype: Protein coding
Organism: Homo sapiens
Location: 14:88,824,153-88,881,079
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 14988
exact match: identifiers.org/ncbigene/123016
genomic end: 89344335
genomic start: 89290497
cytogenetic location: 14q31.3

Sources (4)

via Wikidata · CC0

~1 min read

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.