HAX1

HAX1

A gene on chromosome 1q21.3 that encodes a protein which promotes cell survival. HAX1 potentiates GNA13-mediated cell migration and is involved in clathrin-mediated endocytosis. It may be involved in internalising ABC transporters (e.g., ABCB11), may inhibit CASP9 and CASP3, and may regulate intracellular calcium pools.

Molecular pathology
Defects of HAX1 cause Kostmann disease (severe congenital neutropenia autosomal recessive type 3).
References in periodicals archive ?
Gene mutation examinations (ELA2, GFI-1, WAS, SBDS (Shwachman-Diomand syndrome), HAX1, TAZ (Barth syndrome), Fanconi genes, LYST (Chediak Higashi syndrome), G6PC3 deficiency)
Until the present time, a total of 19 gene defects including 7 gene mutations leading to congenital neutropenia (ELANE; CXCR4, SBDS, PT14, HAX1, G6PC3, RUNX1) and different genetic diseases accompanied by neutropenias have been identified (12).
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
The HAX1 gene protein product is involved in stabilizing the mitochondrial membrane potential [26].
Leukemic transformation occurred in patients with both ELA2 and HAX1 mutations [30,31].
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Mutation in HAX1 gene was found in four of the patients and mutation in G6PC3 gene was found in two by comparing with the main gene.
Patient 1: HAX1, exon 2: insertion of nucleotide A into DNA (insertion A) causes early finish of protein synthesis by forming inhibitor codon at protein level, c.
Patient 2: HAX1, exon 2: insertion of nucleotide A into DNA (insertion A) causes early finish of protein synthesis by forming inhibitor codon at protein level, c.
Patient 4: HAX1, exon-intron linkage point: transformation of nucleotide G to T on DNA leads to loss of the related region at protein level, c.
The other mutation defined in recent years is in HAX1 (HS1-related protein X-1) gene and its relation with SCN was found in 2007.