The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
追加情報Peptide ELISA: antibody detection limit dilution 1:2,000.
WB: Use at a concentration of 1 - 3 µg/ml. Predicted molecular weight: 32 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
機能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.
組織特異性Ubiquitous. Up-regulated in oral cancers.
関連疾患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.
配列類似性Belongs to the HAX1 family.
翻訳後修飾Proteolytically cleaved by caspase-3 during apoptosis.