BBS7

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Bardet-Biedl syndrome 7
Identifiers
Symbols BBS7 ; BBS2L1
External IDs OMIM607590 MGI1918742 HomoloGene12395 GeneCards: BBS7 Gene
Orthologs
Species Human Mouse
Entrez 55212 71492
Ensembl ENSG00000138686 ENSMUSG00000037325
UniProt Q8IWZ6 Q8K2G4
RefSeq (mRNA) NM_018190 NM_027810
RefSeq (protein) NP_060660 NP_082086
Location (UCSC) Chr 4:
122.75 – 122.79 Mb
Chr 3:
36.57 – 36.61 Mb
PubMed search [1] [2]

Bardet-Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.[1]

Mutations in this gene are associated with the Bardet-Biedl syndrome.[1]

References[edit]

  1. ^ 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 1180240. PMID 12567324. 

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