Literature associating HAND1 and hypoplastic left heart syndrome
Heart- and neural crest derivatives-expressed protein 1; Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'- NRTCTG-3' (non-canonical E-box) (By similarity); Basic helix-loop-helix proteins
Synonyms: HAND1, HAND1p, hHAND1, O96004, BHLHA27 ...