磷酸甘露糖变位酶2抗体
规格：1mg/1ml
英文名： PMM2
别名： AI585868; BOS_22465; C86848; CDG 1; CDG1; CDG1a; CDGS; MGC127449; Phosphomannomutase 2; PMM 2; Pmm2; PMM2_HUMAN.
分子量： 28kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human PMM2
交叉反应：Human, Mouse, Rat, Rabbit, Guinea Pig,
细胞定位：细胞浆
磷酸甘露糖变位酶2抗体产品介绍：background: The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008] Function: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. Subcellular Location: Cytoplasm. DISEASE: Defects in PMM2 are the cause of congenital disorder of磷酸甘露糖变位酶2抗体 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, 磷酸甘露糖变位酶2抗体cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. Similarity: Belongs to the eukaryotic PMM family. Database links: Entrez Gene: 510978 Cow Entrez Gene: 5373 Human Entrez Gene: 54128 Mouse Entrez Gene: 302915 Rat Omim: 601785 Human SwissProt: Q3SZJ9 Cow SwissProt: O15305 Human SwissProt: Q9Z2M7 Mouse Unigene: 625732 Human Unigene: 9699 Mouse Unigene: 58278 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
磷酸甘露糖变位酶2抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：肿瘤 细胞生物 **学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid