Analysis of HAX1 Gene (Mutation) in Kostmann Syndrome by RT-qPCR (CAT#: STEM-MT-0142-LGZ)

Introduction

Also known as: SCN3; HS1BP1; HCLSBP1
The protein encoded by this gene is known to be associated with hematopoietic cell-specific Lyn substrate 1 (substrate of Src family tyrosine kinases). It also interacts with the product of the polycystic kidney disease 2 gene, in which mutations are associated with autosomal dominant polycystic kidney disease, and with f-actin-binding protein. The gene product was previously thought to be primarily localized to the mitochondria, but recent studies suggest that it localizes to the cell body. Mutations in this gene cause autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants of this gene have been found to encode different isoforms.