BBS12

BBS12
Identifiers
AliasesBBS12, C4orf24, Bardet-Biedl syndrome 12
External IDsOMIM: 610683; MGI: 2686651; HomoloGene: 17634; GeneCards: BBS12; OMA:BBS12 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001178007
NM_152618

NM_001008502
NM_001255992

RefSeq (protein)

NP_001171478
NP_689831

NP_001008502
NP_001242921

Location (UCSC)Chr 4: 122.73 – 122.74 MbChr 3: 37.37 – 37.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.[5]

Mutations in this gene are associated with the Bardet–Biedl syndrome.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000181004Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051444Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.

Further reading

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