BBS12

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BBS12
Identifiers
Aliases BBS12, C4orf24, Bardet-Biedl syndrome 12
External IDs MGI: 2686651 HomoloGene: 17634 GeneCards: BBS12
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001178007
NM_152618

NM_001008502
NM_001255992

RefSeq (protein)

NP_001171478
NP_689831

NP_001008502.2
NP_001008502
NP_001242921

Location (UCSC) Chr 4: 122.73 – 122.74 Mb Chr 3: 37.31 – 37.32 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Bardet-Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 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 Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H (January 2007). "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome". Am. J. Hum. Genet. 80 (1): 1–11. doi:10.1086/510256. PMC 1785304Freely accessible. PMID 17160889. 

Further reading[edit]

External links[edit]