Bardet–Biedl syndrome 1 protein is a
protein that in humans is encoded by the BBS1gene.[5][6][7]
BBS1 is part of the
BBSome complex, which required for
ciliogenesis.
Mutations in this gene have been observed in patients with the major form (type 1) of
Bardet–Biedl syndrome.
History
As of 2008[update], research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.[7][needs update]
Mykytyn K, Nishimura DY, Searby CC, et al. (2002). "Identification of the gene (BBS1) most commonly involved in Bardet–Biedl syndrome, a complex human obesity syndrome". Nat. Genet. 31 (4): 435–8.
doi:
10.1038/ng935.
PMID12118255.
S2CID29915446.
Fan Y, Green JS, Ross AJ, et al. (2005). "Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval". Hum. Genet. 116 (1–2): 62–71.
doi:
10.1007/s00439-004-1184-9.
PMID15517396.
S2CID2305942.
Bardet–Biedl syndrome 1 protein is a
protein that in humans is encoded by the BBS1gene.[5][6][7]
BBS1 is part of the
BBSome complex, which required for
ciliogenesis.
Mutations in this gene have been observed in patients with the major form (type 1) of
Bardet–Biedl syndrome.
History
As of 2008[update], research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.[7][needs update]
Mykytyn K, Nishimura DY, Searby CC, et al. (2002). "Identification of the gene (BBS1) most commonly involved in Bardet–Biedl syndrome, a complex human obesity syndrome". Nat. Genet. 31 (4): 435–8.
doi:
10.1038/ng935.
PMID12118255.
S2CID29915446.
Fan Y, Green JS, Ross AJ, et al. (2005). "Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval". Hum. Genet. 116 (1–2): 62–71.
doi:
10.1007/s00439-004-1184-9.
PMID15517396.
S2CID2305942.