多种凝血因子缺乏蛋白2抗体
规格：1mg/1ml
英文名： MCFD2
别名： 1810021C21Rik; DKFZp686G21263; F5F8D; LMAN1IP; MCFD 2; Mcfd2; MCFD2_HUMAN; Multiple coagulation factor deficiency protein 2; Neural stem cell derived neuronal survival protein; Neural stem cell-derive
分子量： 16kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human MCFD2
交叉反应：Human, Mouse, Rat,
细胞定位：
多种凝血因子缺乏蛋白2抗体产品介绍：background: This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in ***** central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] Function: The MCFD2-LMAN1多种凝血因子缺乏蛋白2抗体 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors. Subcellular Location: Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus. DISEASE: Defects in MCFD2 are a cause of factor V and factor VIII combined deficiency type 2 (F5F8D2) [MIM:613625]; also known as multiple coagulation factor deficiency 2 (MCFD2). F5F8D2 is a blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, 多种凝血因子缺乏蛋白2抗体that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. Similarity: Contains 2 EF-hand domains. Database links: Entrez Gene: 90411 Human Omim: 607788 Human SwissProt: Q8NI22 Human Unigene: 293689 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
多种凝血因子缺乏蛋白2抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 神经生物学 信号转导 干细胞
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid