BBS12

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Bardet-Biedl syndrome 12
Identifiers
Symbols BBS12 ; C4orf24
External IDs OMIM610683 MGI2686651 HomoloGene17634 GeneCards: BBS12 Gene
Orthologs
Species Human Mouse
Entrez 166379 241950
Ensembl ENSG00000181004 ENSMUSG00000051444
UniProt Q6ZW61 Q5SUD9
RefSeq (mRNA) NM_001178007 NM_001008502
RefSeq (protein) NP_001171478 NP_001008502
Location (UCSC) Chr 4:
123.65 – 123.67 Mb
Chr 3:
37.31 – 37.32 Mb
PubMed search [1] [2]

Bardet-Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.[1]

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

References[edit]

  1. ^ 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 1785304. PMID 17160889. 

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