ARVCF

Name

ARVCF delta catenin family member

Type

protein-coding

Position

19,969,866–20,016,862 (−)

Ensembl

ENSG00000099889

RefSeq RNA

NM_001410839.1, NM_001438683.1, NM_001438684.1, NM_001438685.1, NM_001438687.1

RefSeq protein

NP_001397768.1, NP_001425612.1, NP_001425613.1, NP_001425614.1, NP_001425616.1

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].

via MyGene.info

Gene · Ensembl

ARVCF delta catenin family member

Symbol

ARVCF

Biotype

Protein coding

Organism

Homo sapiens

Location

22:19,969,866-20,016,862

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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