• Gene id: 137682

Gene Summary

• Gene Symbol: NDUFAF6   Gene   UCSC   Ensembl
• Aliases: C8orf38, MC1DN17
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 6
• Alternate names: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6, UPF0551 protein C8orf38, mitochondrial, putative phytoene synthase,
• Gene location: 8q22.1 (94895767: 95118495)     Exons: 27     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 608113

Protein Summary

• Protein general information: Q330K2  
  • Name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 (Putative phytoene synthase)
  • Length: 333  
  • Mass: 38176
• Sequence:

  MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDYEGYLC
  SLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWKAVKRHNLTKR
  WLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKAQGIVTCLRATPYHGS
  RRKVFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTVPVKAFPAFLQTVSLEDFLKK
  IQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY

• Structural information:
  • Interpro: IPR008949  
  • STRING: ENSP00000379430
• Other Databases: GeneCards:  NDUFAF6  Malacards:  NDUFAF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Leigh syndrome	KEGG:H01354
Mitochondrial complex I deficiency	KEGG:H00473
Leigh syndrome	KEGG:H01354
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq