CTNNA3 gene

catenin alpha 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Mar 2014]

From UniProt:

May be involved in formation of stretch-resistant cell-cell adhesion complexes.

From NCBI Gene:

  • Arrhythmogenic right ventricular dysplasia, familial, 13

From UniProt:

Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13): A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. [MIM:615616]

Cytogenetic Location: 10q22.2, which is the long (q) arm of chromosome 10 at position 22.2

Molecular Location: base pairs 65,912,518 to 67,696,217 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q22.2, which is the long (q) arm of chromosome 10 at position 22.2
  • ARVD13
  • VR22