ALG6 Antibody

說明書

產(chǎn)品詳情

Uniprot No.：

Q9Y672
基因名：

ALG6
別名：

ALG6 antibody; My046 antibody; Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase antibody; EC 2.4.1.267 antibody; Asparagine-linked glycosylation protein 6 homolog antibody; Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase antibody; Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase antibody
宿主：

Rabbit
反應(yīng)種屬：

Human,Mouse,Rat
免疫原：

Human ALG6
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

功能：

Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.
基因功能參考文獻(xiàn)：
1. ALG6-CDG has been now described in 89 patients. PMID: 27287710
2. Five novel base substitutions in the hALG6 gene were also found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A). PMID: 21899441
3. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. PMID: 11875054
4. Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation. PMID: 16321363
相關(guān)疾?。?/div>
Congenital disorder of glycosylation 1C (CDG1C)
亞細(xì)胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein.
蛋白家族：

ALG6/ALG8 glucosyltransferase family
數(shù)據(jù)庫鏈接：

HGNC: 23157

OMIM: 603147

KEGG: hsa:29929

STRING: 9606.ENSP00000360149

UniGene: Hs.258501