セレブロシドスルファターゼ

ARSA
PDBに登録されている構造
PDB	オルソログ検索: RCSB PDBe PDBj
PDBのIDコード一覧
	2HI8, 1AUK, 1E1Z, 1E2S, 1E33, 1E3C, 1N2K, 1N2L, 2AIJ, 2AIK
識別子
記号	ARSA, MLD, arylsulfatase A, ASA
外部ID	OMIM: 607574 MGI: 88077 HomoloGene: 20138 GeneCards: ARSA
遺伝子の位置 (ヒト)
染色体	22番染色体 (ヒト)[1]
終点	50,628,173 bp[1]
遺伝子の位置 (マウス)
染色体	15番染色体 (マウス)[2]
終点	89,361,628 bp[2]
RNA発現パターン
	さらなる参照発現データ
遺伝子オントロジー
分子機能	• calcium ion binding; • cerebroside-sulfatase activity; • sulfuric ester hydrolase activity; • 血漿タンパク結合; • 加水分解酵素活性; • 触媒活性; • 金属イオン結合; • arylsulfatase activity;
細胞の構成要素	• リソソーム; • lysosomal lumen; • エキソソーム; • endoplasmic reticulum lumen; • 細胞外領域; • azurophil granule lumen; • 小胞体;
生物学的プロセス	• 翻訳後修飾; • 代謝; • glycosphingolipid metabolic process; • 好中球脱顆粒;
	出典:Amigo / QuickGO
オルソログ
	410
	11883
	ENSG00000100299
	ENSMUSG00000022620
	P15289
	P50428
NM_000487; NM_001085425; NM_001085426; NM_001085427; NM_001085428;
	NM_001362782
	NM_009713
NP_000478; NP_001078894; NP_001078895; NP_001078896; NP_001078897;
	NP_001349711
	NP_033843
	ウィキデータ
閲覧/編集ヒト	閲覧/編集マウス

セレブロシドスルファターゼ(Cerebroside-sulfatase)またはアリールスルファターゼA(Arylsulfatase A)は、セレブロシド-3-硫酸をセレブロシドと硫酸に分解する酵素である。ヒトでは、アリールスルファターゼAはARSA遺伝子でコードされている[5][6]。

病理

欠乏は、異染性白質ジストロフィーと関連している[7]。

出典

GRCh38: Ensembl release 89: ENSG00000100299 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000022620 - Ensembl, May 2017
Human PubMed Reference:
Mouse PubMed Reference:
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. 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.

関連文献

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.
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. 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.
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.
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.
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.
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.

外部リンク

GeneReviews/NCBI/NIH/UW entry on Arylsulfatase A Deficiency - Metachromatic Leukodystrophy
OMIM entries on ARSA Deficiency
Arylsulfatase A - MeSH・アメリカ国立医学図書館・生命科学用語シソーラス（英語）

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100299 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022620 - Ensembl, May 2017

[3] Human PubMed Reference:

[4] Mouse PubMed Reference:

[pmid2562955-5] 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. PMID 2562955.

[pmid15772092-6] 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.

[pmid17347913-7] 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.