HAX1

(redirected from HCLS1 associated protein X-1)

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).