NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8)

Gene

• Entrez ID: 284184
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 8
• Gene symbol: NDUFAF8
• Synonyms (NCBI Gene): C17orf89, MC1DN34
• Chromosome: 17
• Chromosome location: 17q25.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296, 28514442, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	27499296
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	37159021
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	27499296

Other IDs

• MIM: 618461
• HGNC: 33551
• e!Ensembl: ENSG00000224877

Protein

• UniProt ID: A1L188
• Protein name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8
• Protein function: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required to stabilize NDUFAF5 (PubMed:27499296).
• Sequence:

  MSANGAVWGRVRSRLRAFPERLAACGAEAAAYGRCVQASTAPGGRLSKDFCAREFEALRS
  CFAAAAKKTLEGGC

• Sequence length: 74

Pathways

KEGG:

Thermogenesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial complex I deficiency, nuclear type 34	Pathogenic; Likely pathogenic	rs1318084629, rs1598367619, rs1598368033, rs745332456	RCV002253062 RCV001003492 RCV001003491 RCV001003493 RCV001003490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease	Pathogenic; Likely pathogenic	rs1318084629, rs1598367619, rs1598368033, rs745332456	RCV000984081 RCV000984082 RCV000984079 RCV000984080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NDUFAF8-related disorder	Likely pathogenic; Pathogenic	rs745332456	RCV004754579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX I DEFICIENCY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Leigh Disease	Associate	31866046	★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Associate	31866046	★★☆☆☆ Found in Text Mining + Unknown/Other Associations