HAX1

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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 ?
The genes which may cause SCN at molecular level include ELA-2 (neutrophil elastase, sporadic or AD), HAX-1 (HS1-related protein X-1, AR) and G6PC3 (Glucose-6-phosphatase catalytic subunit 3, AR) in order of frequency.
Afterwards, exon parts of the related areas were copied by PCR device using specific primers for ELA-2, HAX-1 and G6PC3 regions.
HAX-1 mutation was found in 4 patients and G6PC3 mutation was found in two patients.
Neurologic involvement was observed in two of the patients with HAX-1 mutation (severe mental retardation, inability to speak and convulsion (Figure 1) in patient 3 and difficulty in learning and academic failure in patient 4).
ELA2/ELANE, HAX-1, G6PC3, GFI1 and WASP gene mutations which may be related to SCN in order of frequency have been defined until now.
Identification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of MDCK cells.
K15 protein of Kaposi's sarcoma-associated herpesvirus is latently expressed and binds to HAX-1, a protein with antiapoptotic function.