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Gene : NDUFAF5 Homo sapiens

Name  ? NADH:ubiquinone oxidoreductase complex assembly factor 5 Cytological Location  20p12.1
Brief Description  NADH:ubiquinone oxidoreductase complex assembly factor 5
description  The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
  • synonyms:
  • MC1DN16,
  • chromosome 20 open reading frame 7,
  • C20orf7,
  • NDUFAF5,
  • HGNC:15899,
  • OTTHUMG00000031909,
  • dJ842G6.1,
  • C20orf7,
  • NADH dehydrogenase (ubiquinone) complex I, assembly factor 5,
  • bA526K24.2,
  • dJ842G6.1,
  • uc002wom.4,
  • NM_001039375
  • identifiers:
  • 79133,
  • ENSG00000101247,
  • NDUFAF5

Genome feature

Region: gene ? Length: 36555  
Location: 20:13785026-13821580 Cyto location: 20p12.1


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results