antibody

HAX1 Rabbit Polyclonal

MBS769997

0.1 mg

290 USD

polyclonal

rabbit

nonconjugated

human, mouse

western blot, ELISA, immunohistochemistry, immunocytochemistry

Antibody

HAX1 Rabbit Polyclonal

[HAX1]

[FLJ17042, FLJ18492, FLJ93803, HAX 1, HAX1, HCLS1 associated protein X 1, HCLSBP1, HS1 associating protein X 1, HS1 binding protein 1, HS1BP1, HSP1BP 1, SCN3]

[HCLS1-associated protein X-1 isoform b; HCLS1-associated protein X-1; HCLS1-associated protein X-1; HCLS1 associated protein X-1; HS1-associating protein X-1; HAX-1; HS1-binding protein 1; HSP1BP-1]

[HAX1]

[HAX1; HAX1; SCN3; HS1BP1; HCLSBP1; HS1BP1; HAX-1; HSP1BP-1]

HAX1_HUMAN

polyclonal

IgG

rabbit

Human, Mouse; other species are not tested.

Please decide the specificity by homology.

> 95% as determined by SDS-PAGE; Immunogen affinity purified

Liquid; PBS with 0.02% sodium azide and 50% glycerol pH 7.3

Store at -20°C for 24 months (Avoid repeated freeze / thaw cycles.)

ELISA, Western Blot (WB), Immuunohistochemistry (IHC), Immunofluorescence (IF)

Recommended dilution: WB: 1:500 - 1:2000; IHC: 1:50 - 1:200; IF: 1:10 - 1:100

Immunohistochemistry (IHC)

SDS-PAGE

Immunofluorescence (IF)

Immunogen: HCLS1 associated protein X-1

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.

66363694

NP_001018238.1

NM_001018837.1

O00165

36 kDa

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: Apoptosis; Endoplasmic reticulum; Vesicle; Mitochondrial. Chromosomal Location of Human Ortholog: 1q21.3. Cellular Component: actin cytoskeleton; cytoplasmic membrane-bound vesicle; endoplasmic reticulum; lamellipodium; mitochondrial intermembrane space; mitochondrial outer membrane; mitochondrion; nuclear envelope; nuclear membrane; sarcoplasmic reticulum; 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

0.1 mg

290 USD