GMPPA Antibody

說明書

產(chǎn)品詳情

Uniprot No.：

Q96IJ6
基因名：

GMPPA
別名：

GDP mannose pyrophosphorylase A antibody; GDP-mannose pyrophosphorylase A antibody; Gmppa antibody; GMPPA_HUMAN antibody; GTP mannose 1 phosphate guanylyltransferase alpha antibody; GTP-mannose-1-phosphate guanylyltransferase alpha antibody; Mannose 1 phosphate guanylyltransferase (GDP) antibody; Mannose-1-phosphate guanyltransferase alpha antibody
宿主：

Rabbit
反應(yīng)種屬：

Human,Mouse,Rat
免疫原：

Human GMPPA
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,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunofluorescence (IF) 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 serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.
基因功能參考文獻：
1. Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder. PMID: 28574218
2. GMPPA might serve as a GMPPB regulatory subunit mediating feedback inhibition of GMPPB instead of displaying catalytic enzyme activity itself. PMID: 24035193
相關(guān)疾病：

Alacrima, achalasia, and mental retardation syndrome (AAMR)
亞細胞定位：

Cytoplasm. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.
蛋白家族：

Transferase hexapeptide repeat family
組織特異性：

Expressed in fibroblasts (at protein level).
數(shù)據(jù)庫鏈接：

HGNC: 22923

OMIM: 615495

KEGG: hsa:29926

STRING: 9606.ENSP00000315925

UniGene: Hs.27059