ARVCF

ARVCF, or Armadillo Repeat protein Deleted in Velo-Cardio-Facial syndrome, is a human gene that encodes a cytoplasmic protein belonging to the armadillo repeat / catenin family. It is a member of the p120-catenin subfamily and is thought to participate in both cell adhesion and signaling processes that coordinate cell behavior.

In cells, ARVCF localizes to adherens junctions where it associates with cadherin-cacterin complexes. Through interactions with classical cadherins and other catenins, ARVCF is believed to help regulate cadherin stability at the cell surface and to influence actin cytoskeleton organization via Rho family GTPases. In addition to cytoplasmic roles at junctions, ARVCF can shuttle to the nucleus and participate in transcriptional regulation in partnership with transcriptional regulators such as Kaiso (ZBTB33), linking cell–cell adhesion to gene expression.

ARVCF is expressed broadly, with patterns that suggest roles in development. Higher expression has been observed in tissues and stages involving the nervous system and heart, consistent with features observed in disorders affecting the 22q11.2 region of the genome.

Clinical significance around ARVCF centers on its location within the 22q11.2 region, a genomic interval subject to deletion in velocardiofacial syndrome (also known as 22q11.2 deletion syndrome). Deletion of this region can lead to a constellation of cardiac, craniofacial, and neural defects; however, the phenotype arises from haploinsufficiency of multiple genes in the interval, with ARVCF considered one of several potential contributing factors rather than a sole cause.

In summary, ARVCF is a catenin-family protein implicated in cadherin-based cell adhesion and in signaling pathways that connect cell–cell junctions to transcriptional regulation, with relevance to development and to disorders involving the 22q11.2 region.