产品名称
ARVC Rabbit Polyclonal Antibody
别名
Armadillo repeat protein deleted in velo-cardio-facial syndrome
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.257% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/421
Human Swissprot No.
O00192
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O00192/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/11877
Mouse Swissprot No.
P98203
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P98203
免疫原
Synthesized peptide derived from human ARVC AA range: 563-613
特异性
This antibody detects endogenous levels of ARVC at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung. Expressed in dermal connective tissue, salivary gland duct and in the corneal layer (at protein level) (PubMed:30479852). Expressed in arrector pili muscle (at protein level) (PubMed:29034528).
功能
disease:Gene deleted in velo-cardio-facial syndrome (VCFS); it is hemizygous in all VCFS patients with interstitial deletions. This hemizygosity may play a role in the etiology of some of the phenotypes associated with VCFS characterized by a wide spectrum phenotypes, including conotruncal heart defects, cleft palate and facial dysmorphology.,function:Involved in protein-protein interactions at adherens junctions.,similarity:Belongs to the beta-catenin family.,similarity:Contains 10 ARM repeats.,tissue specificity:Found in all the examined tissues including heart, brain, liver and kidney. Found at low level in lung.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
