BBS12
| Bardet-Biedl syndrome 12 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | BBS12 ; C4orf24 | ||||||||||||
| External IDs | OMIM: 610683 MGI: 2686651 HomoloGene: 17634 GeneCards: BBS12 Gene | ||||||||||||
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| 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: 122.73 – 122.74 Mb |
Chr 3: 37.31 – 37.32 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- 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.
External links
- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
- Bbs12 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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