ARVCF
Description
The ARVCF (ARVCF delta catenin family member) is a protein-coding gene located on chromosome 22.
ARVCF (Armadillo repeat protein deleted in velo-cardio-facial syndrome) is a human protein encoded by the ARVCF gene. It belongs to the catenin family, which plays a crucial role in the formation of adherens junction complexes, facilitating communication between the cell's interior and exterior. ARVCF was initially identified while searching for the genetic cause of Velo-Cardio-Facial syndrome (VCFS), a common disorder characterized by cleft palate, heart defects, and facial abnormalities. The ARVCF gene encodes a protein containing two key motifs: a coiled coil domain at the N-terminus and a 10-armadillo repeat sequence in the middle region. These motifs enable protein-protein interactions, suggesting ARVCF's involvement in protein complexes. Furthermore, ARVCF contains a predicted nuclear-targeting sequence, implying a potential function as a nuclear protein. ARVCF has been shown to interact with CDH15.
ARVCF contributes to the regulation of alternative splicing of pre-messenger RNA molecules (pre-mRNAs).
ARVCF is also known as -.
