HAND1 (Entrez ID: 9421)

Entrez Gene ID 9421
Official Gene Symbol HAND1 (GeneCards)
Full name heart and neural crest derivatives expressed 1
Location 5q33.2
Other ids Vega : OTTHUMG00000130193
MIM : 602406
HGNC : HGNC:4807
Ensembl : ENSG00000113196
Other names Hxt, eHand, Thing1, bHLHa27
Summary 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]

Variants

Found 1 variant in this database.