Gene: CTNNA1

Alternate names for this Gene: CAP102|MDPT2

Gene Summary: This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.2

Description of this Gene: catenin alpha 1

Type of Gene: protein-coding

rs10038162 in CTNNA1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs755215402 in CTNNA1 gene and Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 PMID 26691986 2016 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.