From Wikipedia, the free encyclopedia
Mammalian protein found in Homo sapiens
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
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
Enzyme regulation
Arylsulfatase A is inhibited by phosphate, which forms a covalent bond with the active site 3-oxoalanine.
[9]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000100299 –
Ensembl , May 2017
^
a
b
c
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 .
Further reading
Narahara K, Takahashi Y, Murakami M, et al. (1992).
"Terminal 22q deletion associated with a partial deficiency of arylsulphatase A" . J. Med. Genet . 29 (6): 432–3.
doi :
10.1136/jmg.29.6.432 .
PMC
1016000 .
PMID
1352356 .
Gieselmann V, Zlotogora J, Harris A, et al. (1995).
"Molecular genetics of metachromatic leukodystrophy" . Hum. Mutat . 4 (4): 233–42.
doi :
10.1002/humu.1380040402 .
PMID
7866401 .
S2CID
23519007 .
DeLuca C, Brown JA, Shows TB (1979).
"Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B" . Proc. Natl. Acad. Sci. U.S.A . 76 (4): 1957–61.
Bibcode :
1979PNAS...76.1957D .
doi :
10.1073/pnas.76.4.1957 .
PMC
383512 .
PMID
36611 .
Fujii T, Kobayashi T, Honke K, et al. (1992). "Proteolytic processing of human lysosomal arylsulfatase A". Biochim. Biophys. Acta . 1122 (1): 93–8.
doi :
10.1016/0167-4838(92)90132-W .
PMID
1352993 .
Kappler J, von Figura K, Gieselmann V (1992). "Late-onset metachromatic leukodystrophy: molecular pathology in two siblings". Ann. Neurol . 31 (3): 256–61.
doi :
10.1002/ana.410310305 .
PMID
1353340 .
S2CID
5481565 .
Li ZG, Waye JS, Chang PL (1992). "Diagnosis of arylsulfatase A deficiency". Am. J. Med. Genet . 43 (6): 976–82.
doi :
10.1002/ajmg.1320430614 .
PMID
1357970 .
Polten A, Fluharty AL, Fluharty CB, et al. (1991).
"Molecular basis of different forms of metachromatic leukodystrophy" . N. Engl. J. Med . 324 (1): 18–22.
doi :
10.1056/NEJM199101033240104 .
PMID
1670590 .
Kondo R, Wakamatsu N, Yoshino H, et al. (1991).
"Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy" . Am. J. Hum. Genet . 48 (5): 971–8.
PMC
1683039 .
PMID
1673291 .
Nelson PV, Carey WF, Morris CP (1991). "Population frequency of the arylsulphatase A pseudo-deficiency allele". Hum. Genet . 87 (1): 87–8.
doi :
10.1007/BF01213099 .
PMID
1674719 .
S2CID
12287382 .
Bohne W, von Figura K, Gieselmann V (1991). "An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy". Hum. Genet . 87 (2): 155–8.
doi :
10.1007/BF00204172 .
PMID
1676699 .
S2CID
21529779 .
Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K (1991).
"Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy" . Am. J. Hum. Genet . 49 (2): 407–13.
PMC
1683316 .
PMID
1678251 .
Fluharty AL, Fluharty CB, Bohne W, et al. (1992).
"Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient" . Am. J. Hum. Genet . 49 (6): 1340–50.
PMC
1686463 .
PMID
1684088 .
Kreysing J, von Figura K, Gieselmann V (1990). "Structure of the arylsulfatase A gene". Eur. J. Biochem . 191 (3): 627–31.
doi :
10.1111/j.1432-1033.1990.tb19167.x .
PMID
1975241 .
Gieselmann V, Polten A, Kreysing J, von Figura K (1990).
"Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site" . Proc. Natl. Acad. Sci. U.S.A . 86 (23): 9436–40.
doi :
10.1073/pnas.86.23.9436 .
PMC
298511 .
PMID
2574462 .
Geurts van Kessel AH (1981). "Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22". Cytogenet. Cell Genet . 28 (3): 169–72.
doi :
10.1159/000131527 .
PMID
7192199 .
Barth ML, Fensom A, Harris A (1995).
"Identification of seven novel mutations associated with metachromatic leukodystrophy" . Hum. Mutat . 6 (2): 170–6.
doi :
10.1002/humu.1380060210 .
PMID
7581401 .
S2CID
27966734 .
Schmidt B, Selmer T, Ingendoh A, von Figura K (1995).
"A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency" . Cell . 82 (2): 271–8.
doi :
10.1016/0092-8674(95)90314-3 .
PMID
7628016 .
Barth ML, Ward C, Harris A, et al. (1995).
"Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population" . J. Med. Genet . 31 (9): 667–71.
doi :
10.1136/jmg.31.9.667 .
PMC
1050073 .
PMID
7815433 .
External links
PDB gallery
1auk : HUMAN ARYLSULFATASE A
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