ARVCF
Sign in to saveAlso 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
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 31046
- exact match
- identifiers.org/ncbigene/421
- genomic end
- 20016823
- genomic start
- 19957419
- cytogenetic location
- 22q11.21
Sources (3)
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- 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 ==