Harmonizome 3.0

arrhythmogenic right ventricular dysplasia 4

arrhythmogenic right ventricular dysplasia 6

arrhythmogenic right ventricular dysplasia 3

Ventricular tachycardia, catecholaminergic polymorphic, 3

myosin, light chain 3, alkali; ventricular, skeletal, slow

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

ventricular zone expressed PH domain-containing 1

Predicted to enable phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in endomembrane system. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

left-right determination factor 2

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]

left-right determination factor 2 pseudogene

left-right determination factor 1

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Aug 2016]

ciliated left-right organizer metallopeptidase

Predicted to enable peptidase activity. Predicted to be involved in establishment of left/right asymmetry. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ciliated left-right organizer protein containing ZP-N domains

Predicted to act upstream of or within determination of left/right symmetry and heart development. [provided by Alliance of Genome Resources, Mar 2025]

cardiomyopathy, restrictive 1A (autosomal dominant)

cardiomyopathy, familial restrictive, 2

cardiomyopathy, restrictive 2A (autosomal recessive)

cardiomyopathy, dilated 1K (autosomal dominant)

cardiomyopathy, dilated 1H (autosomal dominant)

cardiomyopathy, dilated 1F (autosomal dominant)

cardiomyopathy, dilated 1B (autosomal dominant)

cardiomyopathy, dilated 1Q (autosomal dominant)

cardiomyopathy associated 5

Predicted to enable identical protein binding activity and protein phosphatase inhibitor activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade and regulation of skeletal muscle adaptation. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

cardiomyopathy, restrictive 3A (X-linked)

Cardiomyopathy, familial hypertrophic, 21