TTC8


TTC8

protein
Name=tetratricopeptide repeat domain 8
caption=


width=
HGNCid=20087
Symbol=TTC8
AltSymbols=
EntrezGene=123016
OMIM=608132
RefSeq=NM_144596
UniProt= Q8TAM2
PDB=
ECnumber=
Chromosome=14
Arm=q
Band=31.3
LocusSupplementaryData=

Tetratricopeptide repeat domain 8 also known as TTC8 is a human gene.cite journal | author = 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 | title = Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome | journal = Nature | volume = 425 | issue = 6958 | pages = 628–33 | year = 2003 | month = October | pmid = 14520415 | doi = 10.1038/nature02030 | url = | issn = ]

Function

TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is involved in centriolar replication during ciliogenesis.cite journal | author = Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N | title = Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis | journal = J. Cell Biol. | volume = 147 | issue = 5 | pages = 969–80 | year = 1999 | month = November | pmid = 10579718 | pmc = 2169353 | doi = 10.1083/jcb.147.5.969 | url = | issn = ]

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

Clinical significance

Mutations in the TTC8 gene leads to Bardet-Biedl syndrome.cite journal | author = Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H | title = BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families | journal = J. Hum. Genet. | volume = 51 | issue = 1 | pages = 81–4 | year = 2006 | pmid = 16308660 | doi = 10.1007/s10038-005-0320-2 | url = | issn = ]

References

External links

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