Arylsulfatase A

ARSA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases ARSA, MLD, arylsulfatase A
External IDs OMIM: 607574 MGI: 88077 HomoloGene: 20138 GeneCards: ARSA
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

410

11883

Ensembl

ENSG00000100299

ENSMUSG00000022620

UniProt

P15289

P50428

RefSeq (mRNA)

NM_000487
NM_001085425
NM_001085426
NM_001085427
NM_001085428

NM_009713

RefSeq (protein)

NP_000478.3
NP_001078894.2
NP_001078895.2
NP_001078896.2
NP_001078897.1

NP_033843.2

Location (UCSC) Chr 22: 50.62 – 50.63 Mb Chr 15: 89.47 – 89.48 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.[3][4]

Pathology

A deficiency is associated with metachromatic leukodystrophy, an autosomal recessive disease.[5]

Biochemistry

Enzyme Regulation

Arylsulfatase A is inhibited by phosphate, which forms a covalent bond with the active site 3-oxoalanine.[6]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K (January 1989). "Cloning and expression of human arylsulfatase A". J. Biol. Chem. 264 (2): 1252–9. PMID 2562955.
  4. Matzner U, Herbst E, Hedayati KK, Lüllmann-Rauch R, Wessig C, Schröder S, Eistrup C, Möller C, Fogh J, Gieselmann V (May 2005). "Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy". Hum. Mol. Genet. 14 (9): 1139–52. doi:10.1093/hmg/ddi126. PMID 15772092.
  5. Sevin C, Aubourg P, Cartier N (April 2007). "Enzyme, cell and gene-based therapies for metachromatic leukodystrophy". J. Inherit. Metab. Dis. 30 (2): 175–83. doi:10.1007/s10545-007-0540-z. PMID 17347913.
  6. http://www.sinobiological.com/Arylsulfatase-A-a-2849.html. Missing or empty |title= (help); External link in |website= (help);

Further reading

External links


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