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Armadillo repeat gene deleted in velocardiofacial syndrome

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays 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. The 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. The 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, Jun 2010] (from NCBI)
Top mentioned proteins: Armadillo, p0071, E-cadherin, Catechol O-Methyltransferase, N-cadherin
Papers on ARVCF
Identification of Phosphorylation Consensus Sequences and Endogenous Neuronal Substrates of the Psychiatric Risk Kinase TNIK.
Ehlers et al., Worcester, United States. In J Pharmacol Exp Ther, Feb 2016
Among the identified substrates were members of the delta-catenin family including p120-catenin, δ-catenin, and armadillo repeat gene deleted in velo-cardio-facial syndrome (ARVCF), each of which is linked to psychiatric or neurologic disorders.
Replication of a genetic variant for prostate cancer-specific mortality.
Stanford et al., Boston, United States. In Prostate Cancer Prostatic Dis, Sep 2015
RESULTS: One SNP, rs5993891 in the ARVCF gene on chromosome 22q11, which had also replicated in the Swedish cohort, was also significantly associated with PCSM in the PHS cohort (hazard ratio (HR)=0.32;
ARVCF expression is significantly correlated with the malignant phenotype of non-small cell lung cancer.
Wang et al., Shenyang, China. In Mol Carcinog, Jun 2015
Armadillo repeat gene deleted in velo-cardio-facial syndrome (ARVCF) is a member of the p120 catenin (p120ctn) family; it contains nine central Armadillo repeats and binds to the juxtamembrane domain of E-cadherin.
p120 Catenin is required for normal tubulogenesis but not epithelial integrity in developing mouse pancreas.
Leach et al., Baltimore, United States. In Dev Biol, Apr 2015
Although we observed reduced expression of adherens junction proteins E-cadherin, β-catenin, and α-catenin, p120 catenin family members p0071, ARVCF, and δ-catenin remained present at cell membranes in homozygous p120(f/f) pancreases, potentially providing stability for maintenance of epithelial integrity during development.
DIPA-family coiled-coils bind conserved isoform-specific head domain of p120-catenin family: potential roles in hydrocephalus and heterotopia.
Reynolds et al., Nashville, United States. In Mol Biol Cell, 2014
Moreover, all DIPA family members (Ccdc85a, Ccdc85b/DIPA, and Ccdc85c) interact reciprocally with p120 family members (p120, δ-catenin, p0071, and ARVCF), suggesting significant functional overlap.
Common genetic variants and risk of brain injury after preterm birth.
Edwards et al., Edinburgh, United Kingdom. In Pediatrics, 2014
RESULTS: Carriage of the minor allele at rs2518824 in the armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF) gene, which has been linked to neuronal migration and schizophrenia, and rs174576 in the fatty acid desaturase 2 gene, which encodes a rate-limiting enzyme for endogenous long chain polyunsaturated fatty acid synthesis and has been linked to intelligence, was associated with white matter abnormality measured in vivo using diffusion tensor imaging (P = .0009
Nuclear ARVCF protein binds splicing factors and contributes to the regulation of alternative splicing.
Hofmann et al., Heidelberg, Germany. In J Biol Chem, 2014
The armadillo repeat protein ARVCF is a component of adherens junctions.
p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization.
Hatzfeld et al., Halle, Germany. In Biol Chem, 2013
P0071 is a member of a subfamily of armadillo proteins that also comprises p120-catenin (p120ctn), δ-catenin/NPRAP, ARVCF and the more distantly related plakophilins 1-3.
Exons 5-15 of kazrin are dispensable for murine epidermal morphogenesis and homeostasis.
Watt et al., Cambridge, United Kingdom. In J Invest Dermatol, 2012
Kazrin binds to periplakin and ARVCF catenin, and regulates adhesion and differentiation of cultured human keratinocytes.
Linkage of N-cadherin to multiple cytoskeletal elements revealed by a proteomic approach in hippocampal neurons.
Kanai et al., Ōsaka, Japan. In Neurochem Int, 2012
In addition, ARVCF and NPRAP/neurojungin/δ2-catenin, but not p120ctn/δ1-catenin or plakophilins-1, -2, -3, -4 (p0071), were found, suggesting other possible bridges to microtubules.
ARVCF genetic influences on neurocognitive and neuroanatomical intermediate phenotypes in Chinese patients with schizophrenia.
Nowinski et al., Singapore, Singapore. In J Clin Psychiatry, 2012
Schizophrenic patients with more copies of the haplotype T-G-A-T-T-G-G-C-T-G-T (ARVCF-Hap1) have lower white matter integrity in caudate nucleus and greater perseverative errors.
Functions of p120ctn in development and disease.
van Roy et al., Gent, Belgium. In Front Biosci, 2011
We will also elaborate on the structure and function of other members of the p120ctn subfamily: ARVCF, p0071 and delta-catenin.
Chemotherapy refractory testicular germ cell tumor is associated with a variant in Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF).
Kanetsky et al., Rochester, United States. In Front Endocrinol (lausanne), 2011
This SNP lies within the intron region of the Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF).
Genetic variants in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes are prognostic markers of prostate cancer-specific mortality.
Stanford et al., Seattle, United States. In Cancer Epidemiol Biomarkers Prev, 2011
Five SNPs were validated as being significantly associated with prostate cancer mortality, one each in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes.
A functional variant provided further evidence for the association of ARVCF with schizophrenia.
Lafuente et al., Barcelona, Spain. In Am J Med Genet B Neuropsychiatr Genet, 2010
The functional variant rs165815, which affects a critical region of ARVCF, is a considerable source of the genetic variability associated with the risk of developing schizophrenia.
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice.
Hiroi et al., United States. In Hum Mol Genet, 2009
Over-expression of TXNRD2, COMT and ARVCF affects incentive learning and working memory in transgenic mice.
ARVCF single marker and haplotypic association with schizophrenia.
Lafuente et al., Barcelona, Spain. In Prog Neuropsychopharmacol Biol Psychiatry, 2009
Single nucleotide polymorphisms in the ARVGF gene are associated with the risk of schizophrenia.
Beyond regulation of cell adhesion: local control of RhoA at the cleavage furrow by the p0071 catenin.
Hatzfeld et al., Halle, Germany. In Cell Cycle, 2007
P120(ctn) is the prototype of a subfamily of armadillo proteins that also comprises p0071, delta-catenin, ARVCF and the more distantly related plakophilins 1-3.
Developmental functions of the P120-catenin sub-family.
Park et al., Houston, United States. In Biochim Biophys Acta, 2007
More recently, attention has been directed towards p120-catenin, which in conjunction with the p120-catenin sub-family members ARVCF- and delta-catenins, are the subjects of this review.
Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion?
Hatzfeld, Halle, Germany. In Biochim Biophys Acta, 2007
The plakophilins have been characterized as desmosomal proteins, whereas p120(ctn) and the closely related delta-catenin, ARVCF and p0071 associate with adherens junctions and play essential roles in stabilizing cadherin mediated adhesion.
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