Overview

  • Product name
  • Description
    Rabbit polyclonal 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
    Suitable for: WB, ELISAmore details
  • 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

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

  • 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.
  • Information by UniProt
  • Database links
  • Alternative names
    • FLJ17042 antibody
    • FLJ18492 antibody
    • FLJ93803 antibody
    • HAX 1 antibody
    • HAX-1 antibody
    • HAX1 antibody
    • HAX1_HUMAN antibody
    • Hax1a antibody
    • HCLS1 and PKD2 associated protein antibody
    • HCLS1 associated protein antibody
    • HCLS1 associated protein X 1 antibody
    • HCLS1-associated protein X-1 antibody
    • HCLSBP1 antibody
    • HS 1 associated protein X 1 antibody
    • HS 1 binding protein antibody
    • HS1 associating protein X 1 antibody
    • HS1 binding protein 1 antibody
    • HS1 binding protein antibody
    • HS1-associating protein X-1 antibody
    • HS1-binding protein 1 antibody
    • HS1BP1 antibody
    • HSP1BP-1 antibody
    • OTTHUMP00000034190 antibody
    • SCN3 antibody
    see all

References

ab78939 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

Thank you for your inquiry. Here is the alignment for the immunogen for both ab78939 and ab79723 (they are raised against the same peptide):  The isoforms and the percentage of overlap with the immunogen: http://www.uniprot.org/uniprot/Q7TS...

Read More

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

Sign up