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Rabbit Anti-POMT1/Gold Conjugated antibody (bs-5952R-Gold)
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說 明 書: 100ul(10nm  15nm  35nm
100ul/2980.00元
大包裝/詢價(jià)
產(chǎn)品編號 bs-5952R-Gold
英文名稱1 Rabbit Anti-POMT1/Gold Conjugated antibody
中文名稱 膠體金標(biāo)記的蛋白甘露糖基轉(zhuǎn)移酶1抗體
別    名 POMT1_HUMAN; Protein O-mannosyl-transferase 1; Dolichyl-phosphate-mannose--protein mannosyltransferase 1.   
規(guī)格價(jià)格 100ul/2980元 購買        大包裝/詢價(jià)
說 明 書 100ul(10nm  15nm  35nm
研究領(lǐng)域 腫瘤  細(xì)胞生物  免疫學(xué)  神經(jīng)生物學(xué)  糖蛋白  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) (predicted: Human, Mouse, Rat, Pig, Cow, Horse, )
產(chǎn)品應(yīng)用 IEM=1:20-200 ICA=1:20-200 ChIP=1:20-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 85kDa
性    狀 Lyophilized or Liquid
濃    度 0.4mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human POMT1
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.02M TBS(pH8.2) with 1% BSA, 0.03% Proclin300.
保存條件 Store at 2-8 oC for 3-6 months. Avoid repeated freeze/thaw cycles.
產(chǎn)品介紹 background:
POMT1 (Protein O mannosyl transferase 1) is a multipass membrane protein that is found in the endoplasmic reticulum. POMT1 catalyses the transfer of mannosyl residues to the hydroxyl groups of serine or threonine residues. Enzymatic activity is dependent on co expression of POMT1 with POMT2. Defects in the POMT1 gene are associated with Walker-Warburg syndrome (WWS), a congential muscular dystrophy that is associated with mental retardation and is usually lethal within the first few months of life. Other defects in the POMT1 gene result in limb girdle muscular dystrophy type 2K (LGMD2K), which is associated with mild mental retardation. Studies in Drosophila suggest that mutation of POMT1 alters the efficacy of synaptic transmission and a change in subunit composition of post synaptic glutamate receptors at the neuromuscular junction. Missense mutations in POMT1 have been associated with glioneuronal and glial brain tumours.

Function:
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.

Subunit:
Interacts with POMT2 (Probable).

Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.

Tissue Specificity:
Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.

DISEASE:
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry.
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Note=The disease is caused by mutations affecting the gene represented in this entry.
Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. Note=The disease is caused by mutations affecting the gene represented in this entry.

Similarity:
Belongs to the glycosyltransferase 39 family.
Contains 3 MIR domains.

Database links:

Entrez Gene: 10585 Human

Omim: 607423 Human

SwissProt: Q9Y6A1 Human

Unigene: 522449 Human



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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