BCS1L

BCS1-like (yeast), also known as BCS1L, is a human gene.cite web | title = Entrez Gene: BCS1L BCS1-like (yeast)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=617| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: BCS1L BCS1-like (yeast)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=617| accessdate = ]

ee also

* Björnstad syndrome

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Fölsch H, Guiard B, Neupert W, Stuart RA |title=Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria. |journal=EMBO J. |volume=15 |issue= 3 |pages= 479–87 |year= 1996 |pmid= 8599931 |doi=
*cite journal | author=Andersson B, Wentland MA, Ricafrente JY, "et al." |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138
*cite journal | author=Yu W, Andersson B, Worley KC, "et al." |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Lubianca Neto JF, Lu L, Eavey RD, "et al." |title=The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. |journal=Am. J. Hum. Genet. |volume=62 |issue= 5 |pages= 1107–12 |year= 1998 |pmid= 9545407 |doi=
*cite journal | author=Visapää I, Fellman V, Varilo T, "et al." |title=Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. |journal=Am. J. Hum. Genet. |volume=63 |issue= 5 |pages= 1396–403 |year= 1998 |pmid= 9792866 |doi=
*cite journal | author=Petruzzella V, Tiranti V, Fernandez P, "et al." |title=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. |journal=Genomics |volume=54 |issue= 3 |pages= 494–504 |year= 1999 |pmid= 9878253 |doi= 10.1006/geno.1998.5580
*cite journal | author=de Lonlay P, Valnot I, Barrientos A, "et al." |title=A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. |journal=Nat. Genet. |volume=29 |issue= 1 |pages= 57–60 |year= 2001 |pmid= 11528392 |doi= 10.1038/ng706
*cite journal | author=Visapää I, Fellman V, Vesa J, "et al." |title=GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 863–76 |year= 2002 |pmid= 12215968 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Hinson JT, Fantin VR, Schönberger J, "et al." |title=Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. |journal=N. Engl. J. Med. |volume=356 |issue= 8 |pages= 809–19 |year= 2007 |pmid= 17314340 |doi= 10.1056/NEJMoa055262
*cite journal | author=Fernandez-Vizarra E, Bugiani M, Goffrini P, "et al." |title=Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. |journal=Hum. Mol. Genet. |volume=16 |issue= 10 |pages= 1241–52 |year= 2007 |pmid= 17403714 |doi= 10.1093/hmg/ddm072

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