ARVCF Products

Description

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.

Bioinformatics

Entrez	421 Human
Uniprot	NP_001661 Human NP_001661.1 Human
Product By Gene ID	421
Alternate Names	armadillo repeat protein deleted in velo-cardio-facial syndrome FLJ35345 armadillo repeat gene deleted in velocardiofacial syndrome

Diseases related to ARVCF

Discover more about diseases related to ARVCF.

Tissue Adhesions
Digeorge Syndrome
Schizophrenia
Malignant Neoplasms
Neoplasms
Dysequilibrium Syndrome
Dental Plaque
Carcinoma
Cholangiocarcinoma
Kidney Neoplasm
Renal Cell Carcinoma
Prostatic Neoplasms
Congenital Heart Defects
Malignant Neoplasm Of Prostate
Cell Transformation, Neoplastic
Crest Syndrome
Schizoaffective Disorder

Pathways for ARVCF

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Localization
Cell-cell Adhesion
Cell Adhesion
Prepulse Inhibition
Cognition
Transport
Gastrulation
Regulation Of Cell Adhesion
Skin Development
Synaptic Transmission
Keratinocyte Differentiation
Cytokinesis
Startle Response
Methylation
Regeneration
Membrane Depolarization
Ectoderm Formation
Keratinocyte Proliferation
Anagen
Angiogenesis

PTMs for ARVCF

Learn more about PTMs related to ARVCF.

Phosphorylation
Cleavage
Methylation

Bioinformatics Tool for ARVCF

Discover related pathways, diseases and genes to ARVCF. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.