| Name |
|---|
LEFTY2 Geneleft-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] |
LEFTY3 Geneleft-right determination factor 2 pseudogene |
LEFTY1 Geneleft-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] |
CIROP Geneciliated 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] |
CIROZ Geneciliated 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] |
ESCO1 Geneestablishment of sister chromatid cohesion N-acetyltransferase 1 Enables identical protein binding activity; peptide-lysine-N-acetyltransferase activity; and zinc ion binding activity. Involved in peptidyl-lysine acetylation; post-translational protein acetylation; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Mar 2025] |
ESCO2 Geneestablishment of sister chromatid cohesion N-acetyltransferase 2 This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008] |
LVNC2 Genenoncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2 |
ARVD4 Genearrhythmogenic right ventricular dysplasia 4 |
ARVD6 Genearrhythmogenic right ventricular dysplasia 6 |
ARVD3 Genearrhythmogenic right ventricular dysplasia 3 |