.. _NDUFAF6:

NDUFAF6
^^^^^^^

.. contents::
   :local:

General Information
*******************

:Full gene name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
:Entrez Gene ID: 137682
:Location: 8q22.1
:Synonyms: C8orf38
:Type: protein-coding

User SNPs
*********

SNPs given by the user that are near or inside this gene: 

+----------+---------------+-----------+
|   SNP    | Distance (bp) | Direction |
+==========+===============+===========+
| rs896854 |     76710     |  upstream |
+----------+---------------+-----------+

.. _NDUFAF6 Gene summary:

NCBI Summary
************

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]

.. _NDUFAF6 OMIM Text:

OMIM
****

No OMIM data available for this gene.

.. _NDUFAF6 Phenotype:

NCBI Phenotypes
***************

* Gene Reviews
* GTR
* Leigh's disease
* OMIM

.. _NDUFAF6 GO Term:

Gene Ontology
*************

* mitochondrial respiratory chain complex I assembly
* biosynthetic process
* mitochondrial inner membrane
* transferase activity
* nucleus
* cytoplasm

.. _NDUFAF6 Pathway:

KEGG Pathways
*************

No pathways found linked to this gene.

.. _NDUFAF6 GeneRIF:

GeneRIFs
********

* C8orf38 is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate [`PMID 22019594`_]
* Observational study of gene-disease association. (HuGE Navigator) [`PMID 20877624`_]

.. _PMID 22019594: http://www.ncbi.nlm.nih.gov/pubmed/22019594
.. _PMID 20877624: http://www.ncbi.nlm.nih.gov/pubmed/20877624

.. _NDUFAF6 Pubmed:

PubMed Articles
***************

*Recent articles:*

* McKenzie M et al. "Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1." J Mol Biol. 2011 Dec 2;414(3):413-26. `PMID 22019594`_
* Hendrickson SL et al. "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression." PLoS One. 2010 Sep 21;5(9):e12862. `PMID 20877624`_
* Mckenzie M et al. "Assembly factors of human mitochondrial complex I and their defects in disease." IUBMB Life. 2010 Jul;62(7):497-502. `PMID 20552642`_
* Thorburn DR et al. "Mitochondrial DNA-Associated Leigh Syndrome and NARP." None 1993;. `PMID 20301352`_
* Chinnery PF et al. "Mitochondrial Disorders Overview." None 1993;. `PMID 20301403`_
* DiMauro S et al. "Mitochondrial DNA Deletion Syndromes." None 1993;. `PMID 20301382`_
* Saada A et al. "Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease." Am J Hum Genet. 2009 Jun;84(6):718-27. `PMID 19463981`_
* Pagliarini DJ et al. "A mitochondrial protein compendium elucidates complex I disease biology." Cell. 2008 Jul 11;134(1):112-23. `PMID 18614015`_
* Kimura K et al. "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes." Genome Res. 2006 Jan;16(1):55-65. `PMID 16344560`_
* Oh JH et al. "Transcriptome analysis of human gastric cancer." Mamm Genome. 2005 Dec;16(12):942-54. `PMID 16341674`_

.. _PMID 20552642: http://www.ncbi.nlm.nih.gov/pubmed/20552642
.. _PMID 20301352: http://www.ncbi.nlm.nih.gov/pubmed/20301352
.. _PMID 20301403: http://www.ncbi.nlm.nih.gov/pubmed/20301403
.. _PMID 22019594: http://www.ncbi.nlm.nih.gov/pubmed/22019594
.. _PMID 19463981: http://www.ncbi.nlm.nih.gov/pubmed/19463981
.. _PMID 20877624: http://www.ncbi.nlm.nih.gov/pubmed/20877624
.. _PMID 20301382: http://www.ncbi.nlm.nih.gov/pubmed/20301382
.. _PMID 16341674: http://www.ncbi.nlm.nih.gov/pubmed/16341674
.. _PMID 18614015: http://www.ncbi.nlm.nih.gov/pubmed/18614015
.. _PMID 16344560: http://www.ncbi.nlm.nih.gov/pubmed/16344560

*Top Pubmed articles linked to gene NDUFAF6 matching any search term:* 

* Chinnery PF et al. "Mitochondrial Disorders Overview." None 1993;. `PMID 20301403`_

.. _PMID 20301403: http://www.ncbi.nlm.nih.gov/pubmed/20301403