VMA21 Antibody

說明書

產品詳情

Uniprot No.：

Q3ZAQ7
基因名：

VMA21
別名：

VMA21; MEAX; XMEA; Vacuolar ATPase assembly integral membrane protein VMA21; Myopathy with excessive autophagy protein
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human VMA21
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：

Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum.
基因功能參考文獻：
1. A Japanese family afflicted by X-linked myopathy with excessive autophagy displayed high urinary beta2 microglobulin without renal dysfunction. Decreased urine acidification in the distal convoluted tubules might be caused by the VMA21 gene mutation. PMID: 23850239
2. This study showed that LOC203547 is the human ortholog of Vma21p, and that hypomorphic mutations of the VMA21 gene disrupt autophagy and cause -linked Myopathy with Excessive Autophagy. PMID: 23315026
相關疾?。?/div>
Myopathy, X-linked, with excessive autophagy (MEAX)
亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Cytoplasmic vesicle, COPII-coated vesicle membrane; Multi-pass membrane protein.
蛋白家族：

VMA21 family
數據庫鏈接：

HGNC: 22082

OMIM: 300913

KEGG: hsa:203547

STRING: 9606.ENSP00000333255

UniGene: Hs.58633

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