SURF1

SURF1

Surfeit 1, also known as SURF1, is a human gene.cite web | title = Entrez Gene: SURF1 surfeit 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6834| accessdate = ]

PBB_Summary
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summary_text = This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency.cite web | title = Entrez Gene: SURF1 surfeit 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6834| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Shoubridge EA |title=Cytochrome c oxidase deficiency. |journal=Am. J. Med. Genet. |volume=106 |issue= 1 |pages= 46–52 |year= 2001 |pmid= 11579424 |doi= 10.1002/ajmg.1378
*cite journal | author=Lennard A, Gaston K, Fried M |title=The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human. |journal=DNA Cell Biol. |volume=13 |issue= 11 |pages= 1117–26 |year= 1995 |pmid= 7702754 |doi=
*cite journal | author=Yon J, Jones T, Garson K, "et al." |title=The organization and conservation of the human Surfeit gene cluster and its localization telomeric to the c-abl and can proto-oncogenes at chromosome band 9q34.1. |journal=Hum. Mol. Genet. |volume=2 |issue= 3 |pages= 237–40 |year= 1993 |pmid= 8499913 |doi=
*cite journal | author=Duhig T, Ruhrberg C, Mor O, Fried M |title=The human Surfeit locus. |journal=Genomics |volume=52 |issue= 1 |pages= 72–8 |year= 1999 |pmid= 9740673 |doi= 10.1006/geno.1998.5372
*cite journal | author=Zhu Z, Yao J, Johns T, "et al." |title=SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. |journal=Nat. Genet. |volume=20 |issue= 4 |pages= 337–43 |year= 1998 |pmid= 9843204 |doi= 10.1038/3804
*cite journal | author=Yao J, Shoubridge EA |title=Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. |journal=Hum. Mol. Genet. |volume=8 |issue= 13 |pages= 2541–9 |year= 2000 |pmid= 10556303 |doi=
*cite journal | author=Teraoka M, Yokoyama Y, Ninomiya S, "et al." |title=Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. |journal=Hum. Genet. |volume=105 |issue= 6 |pages= 560–3 |year= 2000 |pmid= 10647889 |doi=
*cite journal | author=Poyau A, Buchet K, Bouzidi MF, "et al." |title=Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. |journal=Hum. Genet. |volume=106 |issue= 2 |pages= 194–205 |year= 2000 |pmid= 10746561 |doi=
*cite journal | author=Péquignot MO, Dey R, Zeviani M, "et al." |title=Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. |journal=Hum. Mutat. |volume=17 |issue= 5 |pages= 374–81 |year= 2001 |pmid= 11317352 |doi= 10.1002/humu.1112
*cite journal | author=Ogawa Y, Naito E, Ito M, "et al." |title=Three novel SURF-1 mutations in Japanese patients with Leigh syndrome. |journal=Pediatr. Neurol. |volume=26 |issue= 3 |pages= 196–200 |year= 2002 |pmid= 11955926 |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=Capková M, Hansíková H, Godinot C, "et al." |title= [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome] |journal=Cas. Lek. Cesk. |volume=141 |issue= 20 |pages= 636–41 |year= 2003 |pmid= 12515039 |doi=
*cite journal | author=Sacconi S, Salviati L, Sue CM, "et al." |title=Mutation screening in patients with isolated cytochrome c oxidase deficiency. |journal=Pediatr. Res. |volume=53 |issue= 2 |pages= 224–30 |year= 2003 |pmid= 12538779 |doi=
*cite journal | author=Rossi A, Biancheri R, Bruno C, "et al." |title=Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. |journal=AJNR. American journal of neuroradiology |volume=24 |issue= 6 |pages= 1188–91 |year= 2003 |pmid= 12812953 |doi=
*cite journal | author=Moslemi AR, Tulinius M, Darin N, "et al." |title=SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. |journal=Neurology |volume=61 |issue= 7 |pages= 991–3 |year= 2004 |pmid= 14557577 |doi=
*cite journal | author=Williams SL, Valnot I, Rustin P, Taanman JW |title=Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. |journal=J. Biol. Chem. |volume=279 |issue= 9 |pages= 7462–9 |year= 2004 |pmid= 14607829 |doi= 10.1074/jbc.M309232200
*cite journal | author=Salviati L, Freehauf C, Sacconi S, "et al." |title=Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. |journal=Am. J. Med. Genet. A |volume=128 |issue= 2 |pages= 195–8 |year= 2005 |pmid= 15214016 |doi= 10.1002/ajmg.a.30073
*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=Smith D, Gray J, Mitchell L, "et al." |title=Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme. |journal=J. Biol. Chem. |volume=280 |issue= 18 |pages= 17652–6 |year= 2005 |pmid= 15764605 |doi= 10.1074/jbc.C500061200

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