WBSCR17 Antibody

說明書

產(chǎn)品詳情

Uniprot No.：

Q6IS24
基因名：

GALNT17
別名：

GALNT17 antibody; WBSCR17Polypeptide N-acetylgalactosaminyltransferase 17 antibody; EC 2.4.1.41 antibody; Polypeptide GalNAc transferase-like protein 3 antibody; GalNAc-T-like protein 3 antibody; pp-GaNTase-like protein 3 antibody; Protein-UDP acetylgalactosaminyltransferase-like protein 3 antibody; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3 antibody; Williams-Beuren syndrome chromosomal region 17 protein antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human WBSCR17
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：

May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
基因功能參考文獻：
1. GWA study identified maternal genetic effects not previously identified in ASD at a locus in WBSCR17. PMID: 27876814
2. a subset of O-glycosylation produced by WBSCR17 controls dynamic membrane trafficking, probably between the cell surface and the late endosomes through macropinocytosis PMID: 22787146
相關疾病：

WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
亞細胞定位：

Golgi apparatus membrane; Single-pass type II membrane protein.
蛋白家族：

Glycosyltransferase 2 family, GalNAc-T subfamily
組織特異性：

Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen.
數(shù)據(jù)庫鏈接：

HGNC: 16347

OMIM: 615137

KEGG: hsa:64409

STRING: 9606.ENSP00000329654

UniGene: Hs.488591