NDUFA2
Sign in to saveAlso known as B8, CD14, CIB8, NADH:ubiquinone oxidoreductase subunit A2, MC1DN13
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 is a protein that in humans is encoded by the NDUFA2 gene. The NDUFA2 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in the NDUFA2 gene are associated with Leigh's syndrome.
Gene data
NDUFA2- Name
- NADH:ubiquinone oxidoreductase subunit A2
- Type
- protein-coding
- Position
- 140,638,740–140,647,823 (−)
- Aliases
- B8, CIB8, MC1DN13
- Ensembl
- ENSG00000131495
- RefSeq RNA
- NM_001185012.2, NM_002488.5, NR_033697.2
- RefSeq protein
- NP_001171941.1, NP_002479.1
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NADH:ubiquinone oxidoreductase subunit A2
- Symbol
- NDUFA2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:140,638,740-140,647,823
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein NDUFA2 PDB 1s3a.png
Show 7 more facts
- HomoloGene ID
- 37628
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4695
- genomic end
- 140647771
- genomic start
- 140018325
- chromosome
- human chromosome 5
- cytogenetic location
- 5q31.3
Sources (4)
via Wikidata · CC0
~3 min read
Encyclopedic overview
6 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 is a protein that in humans is encoded by the NDUFA2 gene. The NDUFA2 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Mutations in the NDUFA2 gene are associated with Leigh's syndrome.
== Structure ==
Excerpted from Wikipedia’s “NDUFA2” article, available under the CC BY-SA 4.0 licence.