BBS1
Identifiers
AliasesBBS1, BBS2L2, Bardet-Biedl syndrome 1
External IDsOMIM: 209901 MGI: 1277215 HomoloGene: 11641 GeneCards: BBS1
Orthologs
SpeciesHumanMouse
Entrez

582

52028

Ensembl

ENSG00000174483

ENSMUSG00000006464

UniProt

Q8NFJ9

Q3V3N7

RefSeq (mRNA)

NM_024649

NM_001033128

RefSeq (protein)

NP_078925

NP_001028300

Location (UCSC)Chr 11: 66.51 – 66.53 MbChr 19: 4.94 – 4.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.[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, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000174483 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006464 - 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. 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 1050859. PMID 9039982.
  6. 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 1180240. PMID 12567324.
  7. 1 2 "Entrez Gene: BBS1 Bardet–Biedl syndrome 1".

Further reading


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