This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. GATA1 does not represent a blood group system, but a mutation in this gene is responsible for an X-linked form of Lutheran-mod phenotype, XS2.

Description from GeneCards:
GATA1 (GATA Binding Protein 1) is a Protein Coding gene. Diseases associated with GATA1 include Thrombocytopenia With Beta-Thalassemia, X-Linked and Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia. Among its related pathways are C-MYB transcription factor network and DREAM Repression and Dynorphin Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is GATA2.