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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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(5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27499296, 28514442
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 27499296
GO:0032981 Process Mitochondrial respiratory chain complex I assembly IBA 21873635
GO:0032981 Process Mitochondrial respiratory chain complex I assembly IMP 27499296
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  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Frontotemporal dementia Frontotemporal dementia rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092
View all (31 more)		 26154020
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Complex Deficiency mitochondrial complex 1 deficiency, nuclear type 34, mitochondrial complex I deficiency GenCC
Leigh Syndrome Leigh syndrome GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Leigh Disease Associate 31866046
Mitochondrial complex I deficiency Associate 31866046