Gene: CTNNA3

Alternate names for this Gene: ARVD13|VR22

Gene Summary: This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.3

Description of this Gene: catenin alpha 3

Type of Gene: protein-coding

Gene: LRRTM3

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.3

Description of this Gene: leucine rich repeat transmembrane neuronal 3

Type of Gene: protein-coding

rs4745925 in CTNNA3;LRRTM3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs12764057 in CTNNA3;LRRTM3 gene and Essential Tremor PMID 27797806 2016 Genome-wide association study in essential tremor identifies three new loci.

rs4745925 in CTNNA3;LRRTM3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.