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Merck

BBS7

Bardet-Biedl syndrome 7

Synonyms:
BBS2L1
Species:
Human BBS7 (55212), Mouse Bbs7 (71492), Rat Bbs7 (361930), Zebrafish bbs7 (557491), cow BBS7 (100138953), chicken BBS7 (771481), dog BBS7 (476092), domestic guinea pig Bbs7 (100717774), naked mole-rat Bbs7 (101718716), sheep BBS7 (101107867) ...More
UniProtKB ID:
Q8IWZ6, Q4W5P8, Q8N581, Q9NVI4
Gene ID:
  • Human(55212) Summary: This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011]
  • Mouse(71492) Bardet-Biedl syndrome 7 (human)
  • Rat(361930) Bardet-Biedl syndrome 7
  • Zebrafish(557491) Bardet-Biedl syndrome 7
  • cow(100138953) Bardet-Biedl syndrome 7
  • chicken(771481) Bardet-Biedl syndrome 7
  • dog(476092) Bardet-Biedl syndrome 7
  • domestic guinea pig(100717774) Bardet-Biedl syndrome 7
  • naked mole-rat(101718716) Bardet-Biedl syndrome 7
  • sheep(101107867) Bardet-Biedl syndrome 7
  • Horse(100063923) Bardet-Biedl syndrome 7
  • domestic cat(101088159) Bardet-Biedl syndrome 7
  • Domestic Rabbit(100356131) Bardet-Biedl syndrome 7

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