PIGV Antibody, Biotin conjugated

产品详情

产品名称：

Rabbit anti-Homo sapiens (Human) PIGV Polyclonal antibody
Uniprot No.：

Q9NUD9
基因名：

PIGV
别名：

GPI mannosyltransferase 2 antibody; GPI mannosyltransferase II antibody; GPI MT II antibody; GPI-MT-II antibody; Phosphatidylinositol glycan biosynthesis class V protein antibody; Phosphatidylinositol-glycan biosynthesis class V protein antibody; PIG-V antibody; Pigv antibody; PIGV_HUMAN antibody
宿主：

Rabbit
反应种属：

Human
免疫原：

Recombinant Human GPI mannosyltransferase 2 protein (400-469AA)
免疫原种属：

Homo sapiens (Human)
标记方式：

Biotin
克隆类型：

Polyclonal
抗体亚型：

IgG
纯化方式：

>95%, Protein G purified
浓度：

It differs from different batches. Please contact us to confirm it.
保存缓冲液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
产品提供形式：

Liquid
应用范围：

ELISA
Protocols：

ELISA Protocol
储存条件：

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

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：

Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.
基因功能参考文献：
1. Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns. PMID: 24129430
2. PIGV is the rate-limiting enzyme in GPI biosynthesis under limited dolicholphosphate mannose availability. PMID: 23694781
3. Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency. PMID: 22228761
4. novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome PMID: 21739589
5. PIGV mutations are associated with hyperphosphatasia mental retardation syndrome. PMID: 20802478
6. PIG-V is the second mannosyltransferase in GPI anchor biosynthesis. PMID: 15623507
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相关疾病：

Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)
亚细胞定位：

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

PIGV family
数据库链接：

HGNC: 26031

OMIM: 239300

KEGG: hsa:55650

STRING: 9606.ENSP00000078527

UniGene: Hs.259605