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Merck
모든 사진(1)

주요 문서

I6034

Sigma-Aldrich

α-L-Iduronidase human

recombinant, expressed in mouse NSO cells

동의어(들):

IDUA

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About This Item

효소 위원회 번호:
UNSPSC 코드:
12352204
NACRES:
NA.54

재조합

expressed in mouse NSO cells

Quality Level

양식

solution

특이 활성도

≥7,500 units/μg protein

분자량

83 kDa

불순물

≤1.0 EU/μg Endotoxin

배송 상태

wet ice

저장 온도

−20°C

관련 카테고리

일반 설명

α-L-Iduronidase (IDUA) is mapped to human chromosome 4p16.3. The mature IDUA protein is glycosylated and comprises triosephosphate isomerase (TIM) barrel domain, β-sandwich, helix-loop-helix region and an immunoglobin-like domain. α-L-Iduronidase is classified under glycoside hydrolase (GH) family 39.

애플리케이션

α-L-Iduronidase may be used for leukocyte assay in the study of a-L-Iduronidase deficiency in new born.

생화학적/생리학적 작용

Catalyzes the hydrolysis of unsulfated α-L-iduronosidic linkages in dermatan sulfate
In lysosomal degradation process α-L-Iduronidase plays a crucial role. It hydrolyzes the non-reducing terminal α-L-iduronic acid residues in glycosaminoglycans (GAGs), including dermatan sulfate and heparan sulfate.
Mutation in the α-L-Iduronidase is implicated in Mucopolysaccharidosis I (MPS I) . This enzyme defect leades to accumulation of dermatan and heparan sulfate . MPS I pathophysiology is accompanied with deformation of the skull, mental retardation and hernias.

물리적 특성

Expressed as C-terminal histine-tagged protein (residues 1-653) with a caluclated molecular mass of 71 kDa migrating at ~83 kDa under SDS-PAGE reducing conditions.

단위 정의

One unit will produce 1 picomole of 4-methylumbelliferone from 4-methylumbelliferyl-α-L-iduronide per minute at pH 3.5 at 25 °C.

물리적 형태

Supplied as a solution in 40 mM sodium acetate , 400 mM NaCl and 20% (v/v) glycerol, pH 5.0

Storage Class Code

10 - Combustible liquids

WGK

WGK 1

Flash Point (°F)

Not applicable

Flash Point (°C)

Not applicable


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문서 라이브러리 방문

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis.
N A Chamoles et al.
Clinical chemistry, 47(4), 780-781 (2001-03-29)
Mei Dai et al.
Proceedings of the National Academy of Sciences of the United States of America, 111(7), 2680-2685 (2014-02-20)
Use of megakaryocytes/platelets for transgene expression may take advantage of their rapid turnover and protective storage in platelets and reduce the risk of activating oncogenes in hematopoietic stem and progenitor cells (HSCs). Here, we show that human megakaryocytic cells could
Akemi Tanaka et al.
Molecular genetics and metabolism, 107(3), 513-520 (2012-10-02)
Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for mucopolysaccharidosis I (MPS I) patients <2 years of age and an intelligence quotient (IQ) of ≥ 70.
Kristin D'Aco et al.
European journal of pediatrics, 171(6), 911-919 (2012-01-12)
Our objective was to assess how the diagnosis and treatment of mucopolysaccharidosis I (MPS I) have changed over time. We used data from 891 patients in the MPS I Registry, an international observational database, to analyze ages at symptom onset
Min Jung Kwak et al.
BMC medical genetics, 17(1), 58-58 (2016-08-16)
Mucopolysaccharidosis I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a lack of the lysosomal enzyme α-L-iduronidase (IDUA). To date, more than 200 IDUA mutations have been reported. However, only a few types of mutations are recurrent

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