Arylsulfatase A

Arylsulfatase A

PDB rendering based on 1auk.
Identifiers
Symbols ARSA; MLD
External IDs OMIM607574 MGI88077 HomoloGene20138 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 Q9DC66
RefSeq (mRNA) NM_000487.5 NM_009713.4
RefSeq (protein) NP_000478.3 NP_033843.2
Location (UCSC) Chr 22:
51.06 – 51.07 Mb
Chr 15:
89.3 – 89.31 Mb
PubMed search [1] [2]

Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.[1][2]

Contents

Pathology

A deficiency is associated with metachromatic leukodystrophy.[3]

References

  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. 

Further reading

External links

1e1z: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69S  
1e2s: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69A  
1e33: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT P426L  
1e3c: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69S SOAKED IN SYNTHETIC SUBSTRATE  
1n2k: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A  
1n2l: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A  

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Look at other dictionaries:

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  • Arylsulfatase — is a type of sulfatase enzyme.[1] Types include: Arylsulfatase A (also known as cerebroside sulfatase ) Arylsulfatase B (also known as N Acetylgalactosamine 4 Sulfatase ) Steroid sulfatase (formerly known as Arylsulfatase C ) ARSC2 ARSD ARSE ARSF …   Wikipedia

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  • arylsulfatase C — an arylsulfatase believed to be identical to steryl sulfatase …   Medical dictionary

  • arylsulfatase — noun Any of a group of sulfatase enzymes …   Wiktionary

  • arylsulfatase — An enzyme that cleaves phenol sulfates, including cerebroside sulfates ( i.e., a phenol sulfate + H2O → a phenol + sulfate anion). Some arylsulfatases are inhibited by sulfate (type II) and some are not (type I). SYN: sul …   Medical dictionary

  • arylsulfatase A — cerebroside sulfatase …   Medical dictionary

  • arylsulfatase B — N acetylgalactosamine 4 sulfatase …   Medical dictionary

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