Arylsulfatase A

ARSA
Identifiers
Aliases	ARSA, MLD, arylsulfatase A, ASA
External IDs	OMIM: 607574; MGI: 88077; GeneCards: ARSA
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2HI8, 1AUK, 1E1Z, 1E2S, 1E33, 1E3C, 1N2K, 1N2L, 2AIJ, 2AIK
Enzyme activity
Gene location (Human)
Chr.	Chromosome 22 (human)
End	50,628,173 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	89,361,628 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; right testis; ; granulocyte; ; mucosa of transverse colon; ; left testis; ; apex of heart; ; anterior pituitary; ; minor salivary glands; ; right lobe of thyroid gland; ; right hemisphere of cerebellum;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; decidua; ; medial dorsal nucleus; ; left lobe of liver; ; calvaria; ; motor neuron; ; brown adipose tissue; ; lateral geniculate nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; cerebroside-sulfatase activity; sulfuric ester hydrolase activity; protein binding; hydrolase activity; catalytic activity; metal ion binding; arylsulfatase activity;
Cellular component	lysosome; lysosomal lumen; extracellular exosome; endoplasmic reticulum lumen; extracellular region; azurophil granule lumen; endoplasmic reticulum;
Biological process	post-translational protein modification; metabolism; glycosphingolipid metabolic process; neutrophil degranulation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	410
	11883
	ENSG00000100299
	ENSMUSG00000022620
	P15289
	P50428
NM_000487; NM_001085425; NM_001085426; NM_001085427; NM_001085428;
	NM_001362782
	NM_009713
NP_000478; NP_001078894; NP_001078895; NP_001078896; NP_001078897;
	NP_001349711
	NP_033843
	Wikidata
View/Edit Human	View/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.

Clinical significance

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

Biochemistry

Enzyme regulation

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000100299 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022620 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ 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.
↑ "UniProt". www.uniprot.org. Retrieved 2023-10-31.
↑ "Arylsulfatase A / ARSA". Sino Biological. Retrieved 12 September 2014.