TTC8
Identifiers
AliasesTTC8, BBS8, RP51, tetratricopeptide repeat domain 8
External IDsOMIM: 608132 MGI: 1923510 HomoloGene: 14988 GeneCards: TTC8
Orthologs
SpeciesHumanMouse
Entrez

123016

76260

Ensembl

ENSG00000165533

ENSMUSG00000021013

UniProt

Q8TAM2

Q8VD72

RefSeq (mRNA)

NM_029553
NM_198311
NM_001364378

RefSeq (protein)

NP_083829
NP_938053
NP_001351307

Location (UCSC)Chr 14: 88.82 – 88.88 MbChr 12: 98.89 – 98.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.[5]

Function

TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome.[5] PCM1 in turn is involved in centriolar replication during ciliogenesis.[6]

TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.[5]

Clinical significance

Mutations in the TTC8 gene is one of 14 genes[7] identified as causal for Bardet–Biedl syndrome.[5][8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165533 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021013 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c d Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (October 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome". Nature. 425 (6958): 628–33. Bibcode:2003Natur.425..628A. doi:10.1038/nature02030. PMID 14520415. S2CID 4310157.
  6. ^ Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N (November 1999). "Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis". J. Cell Biol. 147 (5): 969–80. doi:10.1083/jcb.147.5.969. PMC 2169353. PMID 10579718.
  7. ^ Hamosh A (2012-11-02). "OMIM entry #209900 Bardet-Biedl Syndrome; BBS". Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Retrieved 2013-09-04.
  8. ^ Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H (2006). "BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families". J. Hum. Genet. 51 (1): 81–4. doi:10.1007/s10038-005-0320-2. PMID 16308660.

Further reading

External links


Ciliary proteins
Categories