NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 6

Alternative Names

  • NDUFAF6
  • Chromosome 8 Open Reading Frame 38
  • C8orf38
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OMIM Number

612392

NCBI Gene ID

137682

Uniprot ID

Q330K2

Length

222,698 bases

No. of Exons

27

No. of isoforms

3

Protein Name

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Molecular Mass

38176 Da

Amino Acid Count

333

Genomic Location

chr8:94,895,798-95,118,495

Gene Map Locus
8q22.1

Description

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_152416.4:c.296A>GLebanonchr8:95032093PathogenicPathogenicMitochondrial Complex I Deficiency, Nuclear Type 17NM_152416.4:c.296A>G; NP_689629.2:p.Gln99Arg137853184547
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