ARSA

GENE INFORMATION

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Gene name

ARSA

Synonyms

Description

Arylsulfatase A (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]

Chromosome

22

Cytoband

q13.33

Chromosome location (bp)

50622754 - 50628173

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100299 (version 78.38)

Entrez gene

410

UniProt

P15289 (UniProt - Evidence at protein level)

neXtProt

NX_P15289

Antibodypedia

ARSA antibodies
 

PROTEIN VIEW

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ARSA-001
 
ARSA-002
 
ARSA-003
 
ARSA-004
 
ARSA-005
 
 
 
 
 

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)

ARSA-001 ENSP00000216124
ENST00000216124
P15289
Show all »
Show » Show » 509 53.8 Yes 0
ARSA-002 ENSP00000412542
ENST00000453344
P15289
Show all »
Show » Show » 423 44.9 No 0
ARSA-003 ENSP00000378981
ENST00000395619
P15289
Show all »
Show » Show » 509 53.8 Yes 0
ARSA-004 ENSP00000348406
ENST00000356098
P15289
Show all »
Show » Show » 509 53.8 Yes 0
ARSA-005 ENSP00000378983
ENST00000395621
P15289
Show all »
Show » Show » 509 53.8 Yes 0