BBS7
Identifiers
AliasesBBS7, BBS2L1, Bardet-Biedl syndrome 7
External IDsOMIM: 607590 MGI: 1918742 HomoloGene: 12395 GeneCards: BBS7
Orthologs
SpeciesHumanMouse
Entrez

55212

71492

Ensembl

ENSG00000138686

ENSMUSG00000037325

UniProt

Q8IWZ6

Q8K2G4

RefSeq (mRNA)

NM_018190
NM_176824

NM_027810

RefSeq (protein)

NP_060660
NP_789794

NP_082086

Location (UCSC)Chr 4: 121.82 – 121.87 MbChr 3: 36.63 – 36.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[5]

Mutations in this gene are associated with the Bardet–Biedl syndrome.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000138686 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037325 - 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. 1 2 Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (March 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.

Further reading


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