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.
Clonality
polyclonal
Host
Rabbit
Immunogen
HCLS1 associated protein X-1
Immunogen Region
HCLS1 associated protein X-1
Isotype
IgG
Molecular Weight
31 kDa, 36 kDa
Reactivity
Human, Mouse, Rat
Recommended Dilution
WB: 1:500 - 1:2000
Synonyms
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
Uniprot
O00165
Form
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)
Tested Application
WB: 1:500 - 1:2000
Product Manual
<a href="https://www.fn-test.com/content/uploads/product/manuals/antibody/FNab10721.pdf" target="_blank">Data Sheet</ a>