The gene cnn1 encodes a protein belonging to the calponin family, which are actin-binding proteins involved in regulating cytoskeletal organization and cell motility. In embryos, its expression is dete...[+]

The gene cnn1 encodes a protein belonging to the calponin family, which are actin-binding proteins involved in regulating cytoskeletal organization and cell motility. In embryos, its expression is detected in the anterior neural plate, notochord, somites, and branchial arches during development. The protein localizes to the cytoplasm where it interacts with filamentous actin. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD