Literature associating NKX2-5 and scimitar syndrome
Homeobox protein NK-2 homolog E; Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter. It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development; NKL subclass homeoboxes and pseudogenes
Synonyms: NKX2-5, A1ECB8, E5RH49, P52952, A1ECB8p ...