Disease-gene associations mined from literature

Literature associating HAX1 and autosomal dominant severe congenital 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; Belongs to the HAX1 family.

Synonyms:  HAX1,  HAX1p,  hHAX1,  E9PIQ7,  O00165 ...

Linkouts:  STRING  Pharos  UniProt  OMIM