BBS12

BBS12
Identifiers
AliasesBBS12, C4orf24, Bardet-Biedl syndrome 12
External IDsMGI: 2686651 HomoloGene: 17634 GeneCards: BBS12
Gene location (Human)
Chr.Chromosome 4 (human)[1]
Band4q27Start122,732,702 bp[1]
End122,744,943 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

166379

241950

Ensembl

ENSG00000181004

ENSMUSG00000051444

UniProt

Q6ZW61

Q5SUD9

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: 37.31 – 37.32 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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000181004 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051444 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 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

  • Marion V, Stoetzel C, Schlicht D, et al. (2009). "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation". Proc. Natl. Acad. Sci. U.S.A. 106 (6): 1820–5. doi:10.1073/pnas.0812518106. PMC 2635307. PMID 19190184.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.


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