ARVCF

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS) a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq]

Full Name

armadillo repeat gene deletes in velocardiofacial syndrome

Function

Involved in protein-protein interactions at adherens junctions.

Biological Process

Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: InterPro
Cell adhesion Source: ProtInc
Cell-cell adhesion Source: GO_Central
Cell-cell junction assembly Source: GO_Central
Multicellular organism development Source: ProtInc

Cellular Location

Nucleus; Plasma membrane; Adherens junction; Cytoplasm; Intracellular anatomical structure