Arylsulfatase A

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
ARSA
Protein ARSA PDB 1auk.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesARSA, MLD, arylsulfatase A, ASA
External IDsOMIM: 607574 MGI: 88077 HomoloGene: 20138 GeneCards: ARSA
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for ARSA
Genomic location for ARSA
Band22q13.33Start50,622,754 bp[1]
End50,628,173 bp[1]
RNA expression pattern
PBB GE ARSA 204443 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_009713

RefSeq (protein)

NP_033843

Location (UCSC)Chr 22: 50.62 – 50.63 MbChr 15: 89.47 – 89.48 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]

Pathology[edit]

A deficiency is associated with metachromatic leukodystrophy, an autosomal recessive disease.[7]

Biochemistry[edit]

Enzyme regulation[edit]

Arylsulfatase A is inhibited by phosphate, which forms a covalent bond with the active site 3-oxoalanine.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100299 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022620 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. 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.
  8. ^ "Arylsulfatase A / ARSA". Sino Biological. Retrieved 12 September 2014.

Further reading[edit]

External links[edit]