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Gene : SURF1 Homo sapiens

Name  ? SURF1 cytochrome c oxidase assembly factor Cytological Location  9q34.2
Brief Description  SURF1, cytochrome c oxidase assembly factor
description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • SURF1,
  • NM_003172,
  • surfeit 1,
  • surfeit locus protein 1,
  • OTTHUMG00000020866,
  • HGNC:11474,
  • CMT4K,
  • uc004cdh.3
  • identifiers:
  • 6834,
  • ENSG00000148290,
  • SURF1

Genome feature

Region: gene ? Length: 4681  
Location: 9:133351805-133356485 reverse strand Cyto location: 9q34.2

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2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

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Gene(s) --> Significant SNPs (GTex data)

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2011 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results