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NDUFAF6

NDUFAF6

The information on this page was automatically extracted from online scientific databases.

What is the official name of the NDUFAF6 gene?

The official name of this gene is “NADH dehydrogenase (ubiquinone) complex I, assembly factor 6.”

NDUFAF6 is the gene's official symbol. The NDUFAF6 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the NDUFAF6 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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. [provided by RefSeq, Nov 2011]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.

How are changes in the NDUFAF6 gene related to health conditions?

Genetics Home Reference provides information about Leigh syndrome, which is associated with changes in the NDUFAF6 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the NDUFAF6 gene's known or predicted involvement in human disease.

Mitochondrial complex I deficiency (MT-C1D): A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the NDUFAF6 gene.
  • Leigh's disease[2]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]

Where is the NDUFAF6 gene located?

Cytogenetic Location: 8q22.1

Molecular Location on chromosome 8: base pairs 95,024,980 to 95,058,715

The NDUFAF6 gene is located on the long (q) arm of chromosome 8 at position 22.1.

The NDUFAF6 gene is located on the long (q) arm of chromosome 8 at position 22.1.

More precisely, the NDUFAF6 gene is located from base pair 95,024,980 to base pair 95,058,715 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about NDUFAF6?

You and your healthcare professional may find the following resources about NDUFAF6 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NDUFAF6 gene or gene products?

  • C8orf38

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding NDUFAF6?

cardiomyopathy ; deficiency ; domain ; encephalopathy ; gene ; hereditary ; leukodystrophy ; macrocephaly ; mitochondria ; neonatal ; neuropathy ; oxidoreductase ; protein ; respiratory ; subunit ; syndrome ; ubiquinone

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: September 15, 2014