Armadillo repeat protein deleted in velocardiofacial syndrome (ARVCF)

Armadillo repeat protein deleted in velocardiofacial syndrome (ARVCF) is a member of the p120-catenin subfamily of armadillo repeat-containing proteins, closely related to delta-catenin, p120-catenin, and p0071-catenin[1][2]. ARVCF contains armadillo repeats and is involved in cell-cell adhesion by stabilizing cadherin complexes at adherens junctions, and it regulates the actin cytoskeleton through modulation of small Rho GTPases[1]. ARVCF is required for proper craniofacial development, contributing to neural crest cell establishment, migration, and differentiation, often through its interaction with adaptor proteins such as Kazrin and other p120 subfamily members[2]. Mutations or deletions affecting ARVCF are implicated in congenital disorders such as velocardiofacial syndrome (22q11.2 deletion syndrome), contributing to craniofacial abnormalities and potentially cardiac defects[2]. Although ARVCF is structurally related to proteins with roles in cancer and neurodevelopment, there is limited direct evidence to support ARVCF as a major therapeutic target or druggable receptor/enzyme. Summary: ARVCF (Armadillo repeat protein deleted in velocardiofacial syndrome) is a structural cytoskeletal-associated protein essential for cell adhesion and craniofacial development, closely related to delta-catenin, but is not considered a direct therapeutic target at present[1][2].

Other names

ARVCF cateninARVCFArmadillo repeat gene deleted in velocardiofacial syndromesplicing regulator ARVCFdelta-catenin family memberArmadillo repeat protein deleted in velo-cardio-facial syndrome