Gene Symbol | CTNNA1 |
Entrez Gene ID | 1495 |
Full Name | catenin alpha 1 |
Synonyms | CAP102,MDPT2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, May 2016]. |
Disorder MIM: | |
Disorder Html: | Macular dystrophy, patterned, 2, 608970 (3) |