Aliases for HAND1 Gene
External Ids for HAND1 Gene
Previous GeneCards Identifiers for HAND1 Gene
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]
GeneCards Summary for HAND1 Gene
HAND1 (Heart And Neural Crest Derivatives Expressed 1) is a Protein Coding gene. Diseases associated with HAND1 include tetralogy of fallot and congenital heart disease. Among its related pathways are Heart Development and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is LYL1.
UniProtKB/Swiss-Prot for HAND1 Gene
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).