NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284184
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase complex assembly factor 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFAF8
Synonyms (NCBI Gene) Gene synonyms aliases
C17orf89, MC1DN34
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618461 33551 ENSG00000224877
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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).
Family and domains
Sequence 
MSANGAVWGRVRSRLRAFPERLAACGAEAAAYGRCVQASTAPGGRLSKDFCAREFEALRS
CFAAAAKKTLEGGC
Sequence length 74
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Thermogenesis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 34 rs1598368033, rs745332456, rs1318084629, rs1598367619 N/A
Fatal Mitochondrial Disease Mitochondrial disease rs1598368033, rs745332456, rs1318084629, rs1598367619 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Leigh Disease Associate 31866046
Mitochondrial complex I deficiency Associate 31866046