BBS1

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BBS1
Identifiers
AliasesBBS1, BBS2L2, Bardet-Biedl syndrome 1
External IDsMGI: 1277215 HomoloGene: 11641 GeneCards: BBS1
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for BBS1
Genomic location for BBS1
Band11q13.2Start66,510,606 bp[1]
End66,533,613 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024649

NM_001033128

RefSeq (protein)

NP_078925

NP_001028300

Location (UCSC)Chr 11: 66.51 – 66.53 MbChr 19: 4.89 – 4.91 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[edit]

As of 2008, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.[7][needs update]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174483 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006464 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. ^ a b "Entrez Gene: BBS1 Bardet-Biedl syndrome 1".

External links[edit]

External links[edit]

Further reading[edit]