Arylsulfatase A
| ARSA | |||
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| Location (UCSC) | Chr 22: 50.62 – 50.63 Mb | Chr 15: 89.36 – 89.36 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| 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.[5][6]
Clinical significance
A deficiency in Arylsulfatase A is associated with
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.
- PMID 2562955.
- PMID 15772092.
- 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. PMID 1352356.
- Gieselmann V, Zlotogora J, Harris A, et al. (1995). "Molecular genetics of metachromatic leukodystrophy". Hum. Mutat. 4 (4): 233–42. 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. 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. 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. S2CID 5481565.
- Li ZG, Waye JS, Chang PL (1992). "Diagnosis of arylsulfatase A deficiency". Am. J. Med. Genet. 43 (6): 976–82. 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. 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. PMID 1673291.
- Nelson PV, Carey WF, Morris CP (1991). "Population frequency of the arylsulphatase A pseudo-deficiency allele". Hum. Genet. 87 (1): 87–8. 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. 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. 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. PMID 1684088.
- Kreysing J, von Figura K, Gieselmann V (1990). "Structure of the arylsulfatase A gene". Eur. J. Biochem. 191 (3): 627–31. 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. 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. PMID 7192199.
- Barth ML, Fensom A, Harris A (1995). "Identification of seven novel mutations associated with metachromatic leukodystrophy". Hum. Mutat. 6 (2): 170–6. 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. 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. PMID 7815433.
External links
- GeneReviews/NCBI/NIH/UW entry on Arylsulfatase A Deficiency - Metachromatic Leukodystrophy
- OMIM entries on ARSA Deficiency
- Arylsulfatase+A at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human ARSA genome location and ARSA gene details page in the UCSC Genome Browser.
- Overview of all the structural information available in the PDB for UniProt: P15289 (Human Arylsulfatase A) at the PDBe-KB.
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