Arylsulfatase A

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Arylsulfatase A
Protein ARSA PDB 1auk.png
PDB rendering based on 1auk.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ARSA ; MLD
External IDs OMIM607574 MGI88077 HomoloGene20138 ChEMBL: 2193 GeneCards: ARSA Gene
EC number 3.1.6.8
RNA expression pattern
PBB GE ARSA 204443 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 410 11883
Ensembl ENSG00000100299 ENSMUSG00000022620
UniProt P15289 P50428
RefSeq (mRNA) NM_000487 NM_009713
RefSeq (protein) NP_000478 NP_033843
Location (UCSC) Chr 22:
51.06 – 51.07 Mb
Chr 15:
89.47 – 89.48 Mb
PubMed search [1] [2]

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.[1][2]

Pathology[edit]

A deficiency is associated with metachromatic leukodystrophy, an autosomal recessive disease.[3]

Biochemistry[edit]

Enzyme Regulation[edit]

Arylsulfatase A is inhibited by phosphate, which forms a covalent bond with the active site 3-oxoalanine.[4]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ http://www.sinobiological.com/Arylsulfatase-A-a-2849.html. 

Further reading[edit]

External links[edit]