HAX1(redirected from HCLSBP1)
HAX1A 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.
Defects of HAX1 cause Kostmann disease (severe congenital neutropenia autosomal recessive type 3).
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