Gene: HAX1
Alternate names for this Gene: HCLSBP1|HS1BP1|SCN3
Gene Summary: 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1q21.3
Description of this Gene: HCLS1 associated protein X-1
Type of Gene: protein-coding
rs13796 in
HAX1 gene and
Diastolic blood pressure
PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
rs141970914 in
HAX1 gene and
Severe congenital neutropenia
PMID 19796188 2009 A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).
PMID 20220065 2010 Digenic mutations in severe congenital neutropenia.
PMID 17187068 2007 HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
PMID 18337561 2008 Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
PMID 19036076 2009 Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
PMID 20065084 2010 Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
PMID 24482108 2014 Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
PMID 22102707 2012 A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.