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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 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6) is a Protein Coding gene. Diseases associated with NDUFAF6 include Mitochondrial Complex I Deficiency, Nuclear Type 17 and Fanconi Renotubular Syndrome 5. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity. An important paralog of this gene is MMGT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
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2 | Metabolism |
.40
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | - | ||||||||||||
SP3: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NDUFAF6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NDUFAF6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NDUFAF6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NDUFAF6 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ndufaf6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ndufaf6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NDUFAF6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NDUFAF6 31 |
|
OneToOne | |
C2H8ORF38 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | NDUFAF6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ndufaf6 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.11651 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ndufaf6 30 31 |
|
OneToOne | |
Dr.7072 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15738 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000326 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_B0334.5 30 |
|
||
B0334.5 31 |
|
OneToOne | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G62730 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os06g0104100 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09517 30 |
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
671643 | Benign: not provided | 95,035,242(+) | CTT/C | INTRON_VARIANT | |
675477 | Benign: not provided | 95,052,327(+) | C/T | INTRON_VARIANT | |
676241 | Benign: not provided | 95,031,848(+) | G/A | INTRON_VARIANT | |
681196 | Benign: not provided | 95,045,990(+) | G/A | INTRON_VARIANT | |
681229 | Benign: not provided | 95,031,814(+) | T/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv25638 | CNV | loss | 19812545 |
esv3618095 | CNV | loss | 21293372 |
nsv1117841 | CNV | deletion | 24896259 |
nsv508520 | CNV | deletion | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex i deficiency, nuclear type 17 |
|
|
fanconi renotubular syndrome 5 |
|
|
leigh syndrome with leukodystrophy |
|
|
leigh syndrome |
|
|
fanconi syndrome |
|
|