本公司提供科研HAX1造血干细胞特异性相关结合蛋白1抗体，抗体质量可靠，订购HAX1造血干细胞特异性相关结合蛋白1抗体请联系在线客服或者销售人员。
抗体参数如下>>>>
中文名称：造血干细胞特异性相关结合蛋白1抗体
英文名称：Anti-HAX1
货号：bs-7626R
抗体来源：兔
克隆类型：多克隆
蛋白分子量：predicted molecular weight: 31kDa
纯化方法：affinity purified by Protein A
交叉反应：hu, mo, rat, pig, hrs, cow, dog, Rb
测试应用：ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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.
产品背景介绍：RelevanceHAX1 associates with HS1, binding to its N-terminal region. It is also known to associate with PKD2 (involved in polycystic kidney disease) and with cortactin/EMS1. HAX1 is also reported to bind to hairpin structures in vimentin and DNA polymerase beta mRNAs, so may play a role in mRNA stability and transport. It may also function in promoting cell survival. Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3 (SCN3) also called Kostmann disease.Function : Promotes cell survival. Potentiates GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. May regulate intracellular calcium pools.Subunit : Interacts with ABCB1, ABCB4 and ABCB11 (By similarity). Directly associates with HCLS1/HS1, through binding to its N-terminal region. Interacts with CTTN. Interacts with PKD2. Interacts with GNA13. Interacts with CASP9. Interacts with ITGB6. Interacts with PLN and ATP2A2; these interactions are inhibited by calcium. Interacts with GRB7. Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4.Subcellular Location : Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle (By similarity). Sarcoplasmic reticulum (By similarity).Tissue Specificity : Ubiquitous. Up-regulated in oral cancers.Post-translational modifications : Proteolytically cleaved by caspase-3 during apoptosis.DISEASE : Defects in HAX1 are the cause of neutropenia severe congenital autosomal recessive type 3 (SCN3) [MIM:610738]; also known as Kostmann disease. A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. Note=The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms.Similarity : Belongs to the HAX1 family.HAX1蛋白在线粒体蛋白广泛表达，是一种抗凋亡蛋白，与bel-2有相似的机制。