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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/29 19:04:58」(JST)

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Iduronate-2-sulfatase is a sulfatase enzyme associated with Hunter syndrome.

Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. A splice variant of this gene has been described.^[1]

References[edit]

^ "Entrez Gene: IDS iduronate 2-sulfatase (Hunter syndrome)".

External links[edit]

GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II

UpToDate Contents

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1. ムコ多糖症：合併症およびマネージメント mucopolysaccharidoses complications and management

English Journal

Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.

Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK.SourceDepartment of Medical Genetics, Ajou University Hospital, Suwon, South Korea.
American journal of medical genetics. Part A.Am J Med Genet A.2013 Mar 25. doi: 10.1002/ajmg.a.35869. [Epub ahead of print]
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome (OMIM 309900), is a rare, X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS; EC 3.1.6.13), which is involved in the lysosomal degradation of glycosaminoglycans (GAG). Although intermittent in
PMID 23529876

Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II Patient.

Volpi N, Zampini L, Maccari F, Santoro L, Galeotti F, Galeazzi T, Gabrielli O, Coppa GV.SourceDepartment of Life Sciences, University of Modena & Reggio Emilia, Via Campi 213/D, 41100, Modena, Italy, volpi@unimo.it.
Glycoconjugate journal.Glycoconj J.2013 Mar 20. [Epub ahead of print]
Enzyme replacement therapy (ERT) is the worldwide standard of care for a number of mucopolysaccharidosis (MPS) diseases. We report a kinetic study of plasmatic dermatan sulfate (DS) in a 3-year-old subject affected by a severe form of MPS II during the first 10 months of ERT with Idursulfase. A str
PMID 23512580

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).

Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK.SourceDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Seoul, Gangnam-ku 135-710, South Korea. jindk@skku.edu.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42.
BACKGROUND: Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulates in the lysosomes of many organs and tissues contributing to the pathology as
PMID 23497636

Japanese Journal

不眠, 自殺念慮を主訴に精神科治療を受けていた閉塞型睡眠時無呼吸を呈した Hunter 症候群の1例

渡辺彰,宮崎英明,加藤大雅 [他],福居和人,堀宏之,平瀬裕章,原城達夫,平田昌義,太田正之
日本内科学会雑誌 96(2), 338-340, 2007-02-10
… Hunter症候群はムコ多糖症（Muchopolysaccaridosis，MPS）2型とも呼ばれ，ムコ多糖分解酵素のiduronate sulfataseの先天性欠損症である．ムコ多糖が皮膚，骨，軟骨などの結合組織に進行性に蓄積することにより種々の臓器障害をきたし，重症例では18歳頃までに死亡する．症例は26歳，男性．主訴は喘鳴と不眠．4歳時にHunter症候群と診断された．入院2カ月前から自殺念慮を訴え精神科で治療を受けていた．巨 …
NAID 10018752675

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type 2

Kato Tomomi,Kato Zenichiro,Kuratsubo Izumi [他]
Journal of Human Genetics 50(8), 395-402, 2005-00-00
NAID 40006876019

Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene

MADDOX L. O.
Biochem Mol Biol Int 43, 1163-1171, 1997
NAID 80010049944

「sulfatase」

Iduronate 2-sulfatase
Identifiers
Symbols	IDS; MPS2; SIDS
External IDs	OMIM: 300823 MGI: 96417 HomoloGene: 169 GeneCards: IDS Gene
EC number	3.1.6.13
Gene Ontology
Molecular function	• iduronate-2-sulfatase activity; • metal ion binding;
Cellular component	• lysosomal lumen;
Biological process	• carbohydrate metabolic process; • glycosaminoglycan catabolic process; • glycosaminoglycan metabolic process; • chondroitin sulfate metabolic process; • chondroitin sulfate catabolic process; • small molecule metabolic process;
	Sources: Amigo / QuickGO
Orthologs
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