HAND1 Chromosome 5
Heart and neural crest derivatives expressed 1
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
5q33.2
Ensembl
ENSG00000113196
Associated Conditions (1)
Hypoplastic left heart syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200556971 | Health Risk | Conflicting classifications of pathogenicity | Hypoplastic left heart syndrome, Hypoplastic left heart syndrome |
| RS775093878 | Health Risk | Conflicting classifications of pathogenicity | Hypoplastic left heart syndrome, Hypoplastic left heart syndrome |