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GeneQ17832165· pop 5· linked from 4 articles

Also known as armadillo repeat gene deleted in velocardiofacial syndrome, ARVCF, delta catenin family member, ARVCF delta catenin family member

Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene.

Gene data

ARVCF
Name
ARVCF delta catenin family member
Type
protein-coding

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
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts
HomoloGene ID
31046
genomic end
20016823
genomic start
19957419
cytogenetic location
22q11.21
Sources (3)

via Wikidata · CC0

~1 min read

Article

5 sections
Contents
  • Function
  • Interactions
  • References
  • External links
  • Further reading

Armadillo repeat protein deleted in velo-cardio-facial syndrome is a protein that in humans is encoded by the ARVCF gene.

== Function ==

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via Wikidata sitelinks · CC0

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