HAX1
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_001018837.1,NM_006118.3 Gene Symbol HAX1
Protein Name Hcls1 associated protein x-1
Alternate Names HCLSBP1, HS1BP1, SCN3
Gene Locus 1q21.3

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
- 12075 605998 10456 -
16915 ENSG00000143575 O00165 HAX1

Disease name Characteristic / Associated features Category inheritance type
Severe congenital neutropenia, autosomal recessive 3 Psychomotor retardation; Seizures; Neutropenia; Recurrent bacterial infections; Increased risk of myelodysplastic syndromes; Increased risk of leukemia; Increased myeloid cell apoptosis Congenital defects of Phagocyte number, function or both Autosomal recessive