BBS1

BBS1
Identifiers
Aliases BBS1, BBS2L2, Bardet-Biedl syndrome 1
External IDs MGI: 1277215 HomoloGene: 11641 GeneCards: BBS1
Orthologs
Species Human Mouse
Entrez

582

52028

Ensembl

ENSG00000174483

ENSMUSG00000006464

UniProt

Q8NFJ9

n/a

RefSeq (mRNA)

NM_024649

NM_001033128

RefSeq (protein)

NP_078925.3

n/a

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

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

References

External links

Further reading


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