PIGT Antibody, FITC conjugated

产品详情

产品名称：

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

Q969N2
基因名：

PIGT
别名：

PIGT antibody; CGI-06 antibody; PSEC0163 antibody; UNQ716/PRO1379 antibody; GPI transamidase component PIG-T antibody; Phosphatidylinositol-glycan biosynthesis class T protein antibody
宿主：

Rabbit
反应种属：

Human
免疫原：

Recombinant Human GPI transamidase component PIG-T protein (402-562AA)
免疫原种属：

Homo sapiens (Human)
标记方式：

FITC
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
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：

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
基因功能参考文献：
1. Whole-exome sequencing revealed compound heterozygous mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in PIGT (NM_015937.5), which were confirmed using Sanger sequencing. Thus inherited GPI anchor deficiency associated with these PIGT mutations was diagnosed PMID: 28728837
2. PIGT-knockout HEK293 cells showed that p.(E237Q) results in a small reduction in the amount of CD59 anchored to the cell membrane. PMID: 28327575
3. mutations in PIGT as the cause of a novel autosomal recessive intellectual disability syndrome PMID: 23636107
4. Germline mutation and a somatic mutation in PIGT is associated with paroxysmal nocturnal hemoglobinuria. PMID: 23733340
5. ER-localized because of information in its transmembrane span PMID: 15713669
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相关疾病：

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3); Paroxysmal nocturnal hemoglobinuria 2 (PNH2)
亚细胞定位：

Endoplasmic reticulum membrane; Single-pass type I membrane protein.
蛋白家族：

PIGT family
数据库链接：

HGNC: 14938

OMIM: 610272

KEGG: hsa:51604

STRING: 9606.ENSP00000279036

UniGene: Hs.437388