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Gene : ARVCF Homo sapiens

Name  ? ARVCF delta catenin family member Cytological Location  22q11.21
Brief Description  ARVCF, delta catenin family member
description  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]
  • synonyms:
  • ARVCF,
  • HGNC:728,
  • NM_001670,
  • armadillo repeat gene deleted in velocardiofacial syndrome,
  • OTTHUMG00000030426,
  • uc002zqz.4
  • identifiers:
  • 421,
  • ENSG00000099889,
  • ARVCF

Genome feature

Region: gene ? Length: 50076  
Location: 22:19966727-20016802 reverse strand Cyto location: 22q11.21


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0 Pathways

2011 SN Ps

5 Cross References

17 Data Sets

12 Homologues

0 Located Features

90 Rna Seq Results