DARS2

GENE INFORMATION

? »

Gene name

DARS2 (HGNC Symbol)

Synonyms

FLJ10514

Description

Aspartyl-tRNA synthetase 2, mitochondrial (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]

Chromosome

1

Cytoband

q25.1

Chromosome location (bp)

173793641 - 173827684

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117593 (version 75.37)

Entrez gene

55157

UniProt

Q6PI48 (UniProt - Evidence at protein level)

neXtProt

NX_Q6PI48

Antibodypedia

DARS2 antibodies
 

PROTEIN VIEW

? »
 
 
 
DARS2-001
 
DARS2-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DARS2-001 ENSP00000355086
ENST00000361951
Q6PI48
Show all »
Show » Show » 645 73.6 No 0
DARS2-201 ENSP00000239457
ENST00000239457
Q9H9M6
Show all »
Show » Show » 190 21.4 No 0