Disease-gene associations mined from literature

Literature associating CTNNA1 and arrhythmogenic right ventricular cardiomyopathy

CTNNA1 [ENSP00000304669]

Catenin (cadherin-associated protein), alpha 1, 102kDa; Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. May play a crucial role in cell differentiation.

Synonyms:  CTNNA1,  CTNNA1p,  hCTNNA1,  B4DKT9,  B4E2G8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM