HAX1, cDNA Clone

For Research Use Only. Not for use in diagnostic procedures.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of HAX1 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

21,801 Da

HCLS1 associated protein X-1

HCLS1-associated protein X-1

HCLS1-associated protein X-1

HS1BP1; HAX-1; HSP1BP-1  [Similar Products]

HAX1_HUMAN

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]

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; Vesicle; Apoptosis; Mitochondrial

Chromosomal Location of Human Ortholog: 1q21.3

Cellular Component: actin cytoskeleton; endoplasmic reticulum; lamellipodium; mitochondrial intermembrane space; mitochondrial outer membrane; mitochondrion; nuclear envelope; transcription factor complex

Molecular Function: interleukin-1 binding; protein binding; protein N-terminus binding

Biological Process: mitochondrion organization and biogenesis; negative regulation of apoptosis; positive regulation of granulocyte differentiation; positive regulation of peptidyl-serine phosphorylation; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein kinase B signaling cascade; positive regulation of transcription from RNA polymerase II promoter; regulation of actin filament polymerization; regulation of apoptosis

Disease: Neutropenia, Severe Congenital, 3, Autosomal Recessive

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