Gene: CDH15

Alternate names for this Gene: CDH14|CDH3|CDHM|MCAD|MRD3

Gene Summary: This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: cadherin 15

Type of Gene: protein-coding

rs66682219 in CDH15 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121434539 in CDH15 gene and Mental Retardation, Autosomal Dominant 3 PMID 19012874 2008 Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.