BBS1

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BBS1
Identifiers
Aliases BBS1, BBS2L2, Bardet-Biedl syndrome 1
External IDs MGI: 1277215 HomoloGene: 11641 GeneCards: BBS1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024649

NM_001033128

RefSeq (protein)

NP_078925

NP_001028300

Location (UCSC) Chr 11: 66.51 – 66.53 Mb Chr 19: 4.89 – 4.91 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Bardet-Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.[3][4][5] 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[edit]

As of 2008, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.[5][needs update]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (May 1997). "Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families". J Med Genet. 34 (2): 92–8. doi:10.1136/jmg.34.2.92. PMC 1050859Freely accessible. PMID 9039982. 
  4. ^ Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (Feb 2003). "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am J Hum Genet. 72 (3): 650–8. doi:10.1086/368204. PMC 1180240Freely accessible. PMID 12567324. 
  5. ^ a b "Entrez Gene: BBS1 Bardet-Biedl syndrome 1". 

External links[edit]

External links[edit]

Further reading[edit]