芳基硫酸酯酶A

芳基硫酸酯酶A (Arylsulfatase A)
PDB解译基于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编号	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]

芳基硫酸酯酶A(Arylsulfatase A、ARSA、酰基硫酸酯酶A、脑苷硫酸酯酶/cerebroside-sulfatase、芳香基硫酸酯酶A)属于酶之一种，它可以分解脑硫脂(sulfatide)，即分解"脑苷3硫酸"(cerebroside 3-sulfate)为脑苷脂及硫酸盐。在人类中，芳基硫酸酯酶A由ARSA基因编码。

病理机制

ARSA缺乏症与异染性脑白质退化症(MLD)有关，属常染色体隐性遗传疾病。

生物化学

酶调节

芳基硫酸酯酶A被磷酸盐所抑制，从而与活性位点"3-甲酰甘氨酸"(3-formylglycine/3-oxoalanine)形成一个共价键。

参见

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

延伸阅读

• 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. 

外部链接

• 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
• 医学主题词表（MeSH）：Arylsulfatase+A