Disease-gene associations mined from literature

Literature associating HAX1 and neutropenia

HAX1 [ENSP00000329002]

HCLS1-associated protein X-1; Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex . Slows down the rate of inactivation of KCNC3 channels . Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools. ECO:0000269|PubMed:17545607, ECO:0000269|PubMed:18319618, ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:26997484,; Belongs to the HAX1 family.

Synonyms:  HAX1,  HAX1p,  hHAX1,  A0A0S2Z565,  A0A0S2Z591 ...

Linkouts:  STRING  Pharos  UniProt  OMIM