NDUFS2

GENE INFORMATION

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Gene name

NDUFS2 (HGNC Symbol)

Synonyms

CI-49

Description

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Chromosome

1

Cytoband

q23.3

Chromosome location (bp)

161197104 - 161214395

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000158864 (version 78.38)

Entrez gene

4720

UniProt

O75306 (UniProt - Evidence at protein level)

neXtProt

NX_O75306

Antibodypedia

NDUFS2 antibodies
 

PROTEIN VIEW

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NDUFS2-001
 
NDUFS2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NDUFS2-001 ENSP00000356972
ENST00000367993
O75306
Show all »
Show » Show » 463 52.5 No 0
NDUFS2-201 ENSP00000376018
ENST00000392179
O75306
Show all »
Show » Show » 457 51.9 No 0