- BBS12
protein
Name=Bardet-Biedl syndrome 12
caption=
width=
HGNCid=26648
Symbol=BBS12
AltSymbols=C4orf24
EntrezGene=166379
OMIM= 610683
RefSeq=NM_152618
UniProt= Q6ZW61
PDB=
ECnumber=
Chromosome=4
Arm=q
Band=27
LocusSupplementaryData=Bardet-Biedl syndrome 12, also known as BBS12 is a human
gene .cite journal | author = 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 | title = Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome | journal = Am. J. Hum. Genet. | volume = 80 | issue = 1 | pages = 1–11 | year = 2007 | month = January | pmid = 17160889 | pmc = 1785304 | doi = 10.1086/510256 | url = | issn = ]Mutations in this gene are associated with the
Bardet-Biedl syndrome .References
External links
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