BCS1L

This MedLibrary.org supplementary page on BCS1L is provided directly from the open source Wikipedia as a service to our readers. Please see the note below on authorship of this content, as well as the Wikipedia usage guidelines. To search for other content from our encyclopedia supplement, please use the form below:

Related Sponsors

BM Pharmacy Generic pharmaceuticals at unbeatable prices. Insomnia, men's health, hair health, pain control. bmpharmacy.com
Online Pharmacy Carisoprodol, tadalafil, sildenafil, vardenafil and more... xlpharmacy.com
MedBasket.com Discreet. Inexpensive. Fast shipping. Great selection. What more can we say? medbasket.com
Frugalmed 2000 reasons to shop with us first. frugalmed.com
Ads by Tiva

BCS1-like (yeast)
Identifiers
Symbols BCS1L; BCS; BCS1; FLNMS; GRACILE; Hs.6719; h-BCS
External IDs OMIM: 603647 MGI: 1914071 HomoloGene: 3193
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 617 66821
Ensembl ENSG00000074582 ENSMUSG00000026172
Uniprot Q9Y276 Q9CZP5
Refseq NM_001079866 (mRNA)
NP_001073335 (protein)		 NM_025784 (mRNA)
NP_080060 (protein)
Location Chr 2: 219.23 - 219.24 Mb Chr 1: 74.52 - 74.53 Mb
Pubmed search [1] [2]

BCS1-like (yeast), also known as BCS1L, is a human gene.1

This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Two alternatively spliced transcripts encoding the same protein have been described.1

See also

References

  1. ^ a b "Entrez Gene: BCS1L BCS1-like (yeast)".

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Fölsch H, Guiard B, Neupert W, Stuart RA (1996). "Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria.". EMBO J. 15 (3): 479–87. PMID 8599931. 
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474. 
  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Lubianca Neto JF, Lu L, Eavey RD, et al. (1998). "The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.". Am. J. Hum. Genet. 62 (5): 1107–12. PMID 9545407. 
  • Visapää I, Fellman V, Varilo T, et al. (1998). "Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.". Am. J. Hum. Genet. 63 (5): 1396–403. PMID 9792866. 
  • Petruzzella V, Tiranti V, Fernandez P, et al. (1999). "Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.". Genomics 54 (3): 494–504. doi:10.1006/geno.1998.5580. PMID 9878253. 
  • de Lonlay P, Valnot I, Barrientos A, et al. (2001). "A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.". Nat. Genet. 29 (1): 57–60. doi:10.1038/ng706. PMID 11528392. 
  • Visapää I, Fellman V, Vesa J, et al. (2002). "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.". Am. J. Hum. Genet. 71 (4): 863–76. PMID 12215968. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. 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. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Hinson JT, Fantin VR, Schönberger J, et al. (2007). "Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.". N. Engl. J. Med. 356 (8): 809–19. doi:10.1056/NEJMoa055262. PMID 17314340. 
  • Fernandez-Vizarra E, Bugiani M, Goffrini P, et al. (2007). "Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.". Hum. Mol. Genet. 16 (10): 1241–52. doi:10.1093/hmg/ddm072. PMID 17403714. 
 This article on a gene on chromosome 2 is a stub. You can help Wikipedia by expanding it.

Wikipedia content modification information:

  • This page was last modified on 16 August 2008, at 04:52.

Wikipedia Authorship and Review

Wikipedia content provided here is not reviewed directly by MedLibrary.org. Wikipedia content is authored by an open community of volunteers and is not produced by or in any way affiliated with MedLibrary.org.

Wikipedia Usage Guidelines

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "BCS1L".

The URL for this specific entry is:

All Wikipedia text is available under the terms of the GNU Free Documentation License. (See Copyrights for details). Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc.