Description to HAX1抗体兔多克隆抗体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.
Tissue specificity Ubiquitous. Up-regulated in oral cancers.
Involvement in 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.
Sequence similarities Belongs to the HAX1 family.
Post-translational
modifications
Proteolytically cleaved by caspase-3 during apoptosis.
Cellular localization Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle. Sarcoplasmic reticulum.
Anti-HAX1 antibody ab78939
Product name Anti-HAX1抗体
Description 兔多克隆抗体to HAX1
Specificity At least four isoforms of HAX1 are known to exist. ab78939 is expected to recognize the longest isoform (HAX1a)
as well as the shortest.
Tested applications WB, ELISA
Species reactivity Reacts with: Mouse, Rat, Human
Immunogen A 15 amino acid synthetic peptide near the amino terminus of human HAX1.
Positive control Human Brain Tissue Lysate
Form Liquid
Storage instructions Store at +4°C.
Storage buffer Preservative: 0.02% Sodium Azide
Constituents: PBS
Purity Immunogen affinity purified
Purification notes ab78939 was purified by affinity chromatography via a peptide column
Clonality Polyclonal
Isotype IgG
Overview
Properties
Applications
Our Abpromise guarantee covers the use of ab78939 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application Abreviews Notes
WB Use a concentration of 1 - 2 μg/ml. Predicted molecular weight: 32 kDa.
ELISA Use at an assay dependent dilution.
Target
Product Datasheet
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