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Arylsulfatase A

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(Redirected from ARSA (gene))
ARSA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesARSA, MLD, arylsulfatase A, ASA
External IDsOMIM: 607574; MGI: 88077; HomoloGene: 20138; GeneCards: ARSA; OMA:ARSA - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_009713

RefSeq (protein)

NP_033843

Location (UCSC)Chr 22: 50.62 – 50.63 MbChr 15: 89.36 – 89.36 Mb
PubMed search[3][4]
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.[5][6]

Clinical significance

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A deficiency in Arylsulfatase A is associated with metachromatic leukodystrophy, an autosomal recessive disease.[7] Multiple sulfatase deficiency (MSD) is also associated with the ARSA gene.[8]

Biochemistry

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Enzyme regulation

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Arylsulfatase A is inhibited by phosphate, which forms a covalent bond with the active site 3-oxoalanine.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100299Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022620Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. doi:10.1016/S0021-9258(19)85079-2. PMID 2562955.
  6. ^ 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.
  7. ^ 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. S2CID 25848916.
  8. ^ "UniProt". www.uniprot.org. Retrieved 2023-10-31.
  9. ^ "Arylsulfatase A / ARSA". Sino Biological. Retrieved 12 September 2014.

Further reading

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