芳基硫酸酯酶A
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
^ 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 .
^ 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 .
^ 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 .
^ 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
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
鞘脂
鞘糖脂 合成神经酰胺 合成
鞘氨醇 合成
神經醯胺酶
ACER1
ACER2
ACER3
ASAH1
ASAH2
ASAH2B
ASAH2C
其它
NCL
棕櫚酰蛋白質水解酶
三肽基肽酶I
CLN3
CLN5
CLN6
CLN8
神經醯胺合成
3.1.1:羧酸酯水解酶类 胆碱酯酶(
乙酰胆碱酯酶 、
丁酰胆碱酯酶 )
· 果胶酯酶
· 6-磷酸葡萄糖酸内酯酶 · 血小板活化因子乙酰水解酶
脂酶 (胆盐依赖性脂酶、胃脂肪酶/舌脂肪酶、胰脂肪酶 、溶酶体酸性脂肪酶、激素敏感性脂肪酶、内皮脂肪酶、肝脂肪酶、脂蛋白脂肪酶、单酰基甘油脂肪酶、二酰基甘油脂肪酶)
磷脂酶 (A1、A2、B)
角质酶 · PET酶 3.1.2:硫酯水解酶类 磷酸酶
碱性磷酸酶 (ALPI、ALPL、ALPP)
· 酸性磷酸酶 (前列腺酸性磷酸酶)/抗酒石酸酸性磷酸酶/紫色酸性磷酸酶
· 核苷酸酶
· 葡萄糖6-磷酸酶
· 果糖1,6-二磷酸酶
· 钙调磷酸酶 · 磷蛋白磷酸酯酶(
PP2 )
· OCRL
· 丙酮酸脱氢酶磷酸酶
· 磷酸果糖激酶2 · PTEN · 植酸酶
· 磷酸肌醇磷酸酶(
IMPA1 )
磷蛋白磷酸酶:
蛋白酪氨酸磷酸酶 · 蛋白丝氨酸/苏氨酸磷酸酶
· 双特异性磷酸酶
自分泌运动因子
· 磷脂酶 (
磷脂酶C 、磷脂酶D)
· 鞘磷脂磷酸二酯酶(1)
· PDE1
· PDE2
· PDE3
· PDE4A/PDE4B
· PDE5
· 卵磷脂酶(产气荚膜梭菌α毒素)
· 环核苷酸磷酸二酯酶
3.1.6:硫酸酯酶类 芳基硫酸酯酶 (
芳基硫酸酯酶A 、芳基硫酸酯酶B、芳基硫酸酯酶E、类固醇硫酸酯酶)
· 氨基半乳糖-6硫酸酯酶
· 艾杜糖醛酸-2-硫酸酯酶
· N-乙酰氨基葡萄糖-6-硫酸酯酶
核酸酶 (包含脱氧核糖核酸酶 及核糖核酸酶 )
脱氧核糖核酸内切酶
脱氧核糖核酸内切酶Ⅰ
脱氧核糖核酸内切酶Ⅱ
脱氧核糖核酸内切酶Ⅳ
限制性内切酶 更多见{限制酶 }
UvrABC核酸内切酶
作用于脱氧核糖核酸或核糖核酸
The article is a derivative under the Creative Commons Attribution-ShareAlike License .
A link to the original article can be found here and attribution parties here
By using this site, you agree to the Terms of Use . Gpedia ® is a registered trademark of the Cyberajah Pty Ltd