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Gene information for ARVCF (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID421
Official gene symbolARVCF
Full namearmadillo repeat gene deleted in velocardiofacial syndrome
Aliases,FLJ35345,
Gene summaryArmadillo 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]
LocationChromosome: 22   Locus: 22q11.21
Gene position20004309 - 19957402  Map Viewer
Gene orientationminus
Gene size46908 bp
Gene sequence
OMIM ID602269