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 | ||||||||||||||||||||||||
|
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 |