芳基硫酸酯酶A

芳基硫酸酯酶A (Arylsulfatase A)
PDB解譯基於1auk.
有效结构 PDB 直系同源检索：PDBe, RCSB PDB查询代码列表 1AUK, 1E1Z, 1E2S, 1E33, 1E3C, 1N2K, 1N2L, 2AIJ, 2AIK, 2HI8
标识
代号	ARSA; MLD
扩展标识	遗传学：607574 鼠基因：88077 同源基因：20138 ChEMBL: 2193 GeneCards: ARSA Gene
EC編號	3.1.6.8
基因本体论描述 分子功能 · arylsulfatase activity · cerebroside-sulfatase activity · calcium ion binding · sulfuric ester hydrolase activity 细胞成分 · acrosomal vesicle · extracellular space · lysosome · endosome · endoplasmic reticulum lumen · integral component of membrane · extrinsic component of external side of plasma membrane · lysosomal lumen · extracellular vesicular exosome 生物过程 · sphingolipid metabolic process · glycosphingolipid metabolic process · autophagy · binding of sperm to zona pellucida · central nervous system development · response to nutrient · response to pH · response to estrogen · post-translational protein modification · cellular protein metabolic process · small molecule metabolic process · response to ethanol · response to methylmercury Sources: Amigo / QuickGO
RNA表达模式
更多表达数据
直系同源体
物种	人类	小鼠
Entrez	410	11883
Ensembl	ENSG00000100299	ENSMUSG00000022620
UniProt	P15289	P50428
mRNA序列	NM_000487	NM_009713
蛋白序列	NP_000478	NP_033843
基因位置	Chr 22: 51.06 – 51.07 Mb	Chr 15: 89.47 – 89.48 Mb
PubMed查询	[1]	[2]
查 论 编

芳基硫酸酯酶A(Arylsulfatase A、ARSA、酰基硫酸酯酶A、腦苷硫酸酯酶/cerebroside-sulfatase、芳香基硫酸酯酶A)屬於酶之一種，它可以分解腦硫脂(sulfatide)，即分解"腦苷3硫酸"(cerebroside 3-sulfate)為脑苷脂及硫酸鹽。在人類中，芳基硫酸酯酶A由ARSA基因編碼。[1][2]

病理機制

ARSA缺乏症與異染性腦白質退化症(MLD)有關，屬常染色体隱性遺傳疾病。[3]

生物化學

酶調節

芳基硫酸酯酶A被磷酸鹽所抑制，從而與活性位點"3-甲酰甘氨酸"(3-formylglycine/3-oxoalanine)形成一個共價鍵。[4]

參見

• 芳基硫酸酯酶B(Arylsulfatase B)
• 類固醇硫酸酯酶(Steroid sulfatase)
• 固醇硫酸酯酶(Steryl-sulfatase)
• 芳基硫酸酯酶E(Arylsulfatase E)

註釋

1. Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K. Cloning and expression of human arylsulfatase A. J. Biol. Chem. January 1989, 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. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum. Mol. Genet. May 2005, 14 (9): 1139–52. PMID 15772092. doi:10.1093/hmg/ddi126. 
3. Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J. Inherit. Metab. Dis. April 2007, 30 (2): 175–83. PMID 17347913. doi:10.1007/s10545-007-0540-z. 
4. Arylsulfatase A / ARSA Summary & Protein Information. [12 September 2014]. （原始内容存档于2017-08-05）. 

延伸閱讀

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

外部連結

• GeneReviews/NCBI/NIH/UW entry on Arylsulfatase A Deficiency - Metachromatic Leukodystrophy （页面存档备份，存于互联网档案馆）
• OMIM entries on ARSA Deficiency
• 醫學主題詞表（MeSH）：Arylsulfatase+A