Western Blot (WB)
(WB Suggested Anti-HAX1 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:312500Positive Control: Human heart)
Rabbit HAX1 Polyclonal Antibody | anti-HAX1 antibody
HAX1 antibody - middle region
Western Blot (WB)
(WB Suggested Anti-HAX1 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:312500Positive Control: Human heart)
Western Blot (WB)
(WB Suggested Anti-HAX1 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:312500Positive Control: Human heart)
Target Description: HAX1 is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Uniprot Description
HAX1: 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. Defects in HAX1 are the cause of neutropenia severe congenital autosomal recessive type 3 (SCN3); 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. 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. Belongs to the HAX1 family. 6 isoforms of the human protein are produced by alternative splicing.
Protein type: Endoplasmic reticulum; Mitochondrial; Apoptosis; Vesicle
Chromosomal Location of Human Ortholog: 1q21.3
Cellular Component: transcription factor complex; nuclear membrane; clathrin-coated vesicle; mitochondrion; sarcoplasmic reticulum; endoplasmic reticulum; lamellipodium; apical plasma membrane; nuclear envelope; actin cytoskeleton
Molecular Function: protein domain specific binding; protein binding; protein N-terminus binding; interleukin-1 binding
Biological Process: positive regulation of phosphoinositide 3-kinase cascade; regulation of apoptosis; positive regulation of protein kinase B signaling cascade; positive regulation of peptidyl-tyrosine phosphorylation; regulation of actin filament polymerization; positive regulation of granulocyte differentiation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of peptidyl-serine phosphorylation
Disease: Neutropenia, Severe Congenital, 3, Autosomal Recessive
Research Articles on HAX1
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Product Notes
The HAX1 hax1 (Catalog #AAA3210632) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The HAX1 antibody - middle region reacts with Cow, Dog, Guinea Pig, Horse, Human, Mouse, Rabbit, Rat, Zebrafish and may cross-react with other species as described in the data sheet. AAA Biotech's HAX1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the HAX1 hax1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: Synthetic peptide located within the following region: QPAPDWGSQR PFHRFDDVWP MDPHPRTRED NDLDSQVSQE GLGPVLQPQP. It is sometimes possible for the material contained within the vial of "HAX1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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