Arylsulfatase A

Arylsulfatase A
PDB rendering based on 1auk.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1AUK, 1E1Z, 1E2S, 1E33, 1E3C, 1N2K, 1N2L, 2AIJ, 2AIK, 2HI8
Identifiers
Symbols	ARSA ; MLD
External IDs	OMIM: 607574 MGI: 88077 HomoloGene: 20138 ChEMBL: 2193 GeneCards: ARSA Gene
EC number	3.1.6.8
Gene ontology Molecular function • arylsulfatase activity • cerebroside-sulfatase activity • calcium ion binding • protein binding • sulfuric ester hydrolase activity Cellular component • lysosome • endoplasmic reticulum lumen • lysosomal lumen • extracellular exosome Biological process • sphingolipid metabolic process • glycosphingolipid metabolic process • post-translational protein modification • cellular protein metabolic process • small molecule metabolic process Sources: Amigo / QuickGO
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_009713
RefSeq (protein)	NP_000478	NP_033843
Location (UCSC)	Chr 22: 50.62 – 50.63 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.

Pathology

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

Biochemistry

Enzyme Regulation

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

External links

• GeneReviews/NCBI/NIH/UW entry on Arylsulfatase A Deficiency - Metachromatic Leukodystrophy
• OMIM entries on ARSA Deficiency
• Arylsulfatase A at the US National Library of Medicine Medical Subject Headings (MeSH)