Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development.
Expressed only in the heart.
Involvement in disease
Atrial septal defect 7, with or without atrioventricular conduction defects Tetralogy of Fallot Conotruncal heart malformations Hypothyroidism, congenital, non-goitrous, 5 Ventricular septal defect 3 Hypoplastic left heart syndrome 2 Asplenia, isolated congenital
Belongs to the NK-2 homeobox family. Contains 1 homeobox DNA-binding domain.