BBS7

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BBS7
Identifiers
Aliases BBS7, BBS2L1, Bardet-Biedl syndrome 7
External IDs MGI: 1918742 HomoloGene: 12395 GeneCards: BBS7
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018190
NM_176824

NM_027810

RefSeq (protein)

NP_060660
NP_789794

NP_082086.2
NP_082086

Location (UCSC) Chr 4: 121.82 – 121.87 Mb Chr 3: 36.57 – 36.61 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[3]

Mutations in this gene are associated with the Bardet-Biedl syndrome.[3]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b 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 1180240Freely accessible. PMID 12567324. 

Further reading[edit]

External links[edit]