重组人PMM2蛋白(ab99391)
Key features and details
- Expression system: Escherichia coli
- Purity: > 90% SDS-PAGE
- Tags: His tag N-Terminus
- Suitable for: SDS-PAGE, MS
描述
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产品名称
重组人PMM2蛋白 -
纯度
> 90 % SDS-PAGE.
ab99391 is purified using conventional chromatography techniques. -
表达系统
Escherichia coli -
Accession
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蛋白长度
Full length protein -
无动物成分
No -
性质
Recombinant -
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种属
Human -
序列
MGSSHHHHHHSSGLVPRGSHMAAPGPALCLFDVDGTLTAPRQKITKEMDD FLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGK LLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVS PIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYS VTAPEDTRRICELLFS -
预测分子量
30 kDa including tags -
氨基酸
1 to 246 -
标签
His tag N-Terminus
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相关产品
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Related Products
技术指标
Our Abpromise guarantee covers the use of ab99391 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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应用
SDS-PAGE
Mass Spectrometry
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质谱法
MALDI-TOF -
形式
Liquid -
Concentration information loading...
制备和贮存
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稳定性和存储
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
pH: 8.00
Constituents: 0.0154% DTT, 0.316% Tris HCl, 10% Glycerol (glycerin, glycerine), 0.58% Sodium chloride
常规信息
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别名
- AI585868
- BOS_22465
- C86848
see all -
功能
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. -
通路
Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2. -
疾病相关
Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]; also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. -
序列相似性
Belongs to the eukaryotic PMM family. -
细胞定位
Cytoplasm. - Information by UniProt
实验方案
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
数据表及文件
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SDS download
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Datasheet download
文献 (0)
ab99391 尚未被引用在任何文献中。