NDUFAF2

GENE INFORMATION

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Gene name

NDUFAF2 (HGNC Symbol)

Synonyms

B17.2L, mimitin, MMTN, NDUFA12L

Description

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 (HGNC Symbol)

Entrez gene summary

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

Chromosome

5

Cytoband

q12.1

Chromosome location (bp)

60945129 - 61153037

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164182 (version 78.38)

Entrez gene

91942

UniProt

Q8N183 (UniProt - Evidence at protein level)

neXtProt

NX_Q8N183

Antibodypedia

NDUFAF2 antibodies
 

PROTEIN VIEW

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NDUFAF2-001
 
NDUFAF2-003
 
NDUFAF2-004
 
 
 
 
 

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)

NDUFAF2-001 ENSP00000296597
ENST00000296597
Q8N183
Show all »
Show » Show » 169 19.9 No 0
NDUFAF2-003 ENSP00000426149
ENST00000502658
Show » 51 6 No 0
NDUFAF2-004 ENSP00000423377
ENST00000511107
D6RA56
Show all »
Show » 60 7.1 No 0