HS1-associating protein X-1 (IPR017248)

Short name: HAX-1

Family relationships



HS1-associating protein X-1 (HAX-1) promotes cell survival [PMID: 9058808] and is involved in the clathrin-mediated endocytosis pathway [PMID: 17545607]. It plays a role in tumour metastasis [PMID: 15339924].

Mutations in HAX-1 gene cause neutropenia, severe congenital 3, autosomal recessive (SCN3), which is a disorder of hematopoiesis characterised by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections [PMID: 17187068].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.