The EVC2 Polyclonal Antibody (PACO59181) is a valuable tool for researchers studying the EVC2 protein, which is involved in ciliogenesis and skeletal development. This antibody, raised in rabbits, is highly specific to human samples and has been validated for use in various applications, including Western blot analysis. By targeting the EVC2 protein, this antibody allows for the detection and analysis of this important molecule in a range of cell types.EVC2 is known for its role in the development of cilia, hair-like structures found on the surface of cells that play essential roles in cell signaling and motility. Mutations in the EVC2 gene are associated with Ellis-van Creveld syndrome, a rare genetic disorder characterized by skeletal abnormalities and other developmental defects.
By studying the function of EVC2, researchers can gain insight into the mechanisms underlying ciliogenesis and skeletal development, potentially leading to new therapeutic approaches for related disorders.Overall, the EVC2 Polyclonal Antibody (PACO59181) is a valuable tool for researchers interested in investigating the roles of the EVC2 protein in cellular processes and developmental pathways. Its high specificity and sensitivity make it an ideal choice for studies in the fields of cell biology, developmental biology, and genetics.
IHC image of PACO59181 diluted at 1:200 and staining in paraffin-embedded human prostate tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
Immunofluorescence staining of A549 cells with PACO59181 at 1:66, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
IHC image of PACO59181 diluted at 1:200 and staining in paraffin-embedded human prostate cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
Background:
Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development.
Synonyms:
Limbin (Ellis-van Creveld syndrome protein 2) (EVC2), EVC2, LBN
UniProt Protein Function:
EVC2: Positive regulator of the hedgehog signaling pathway. Plays a critical role in bone formation and skeletal development. Defects in EVC2 are a cause of Ellis-van Creveld syndrome (EVC); also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Defects in EVC2 are a cause of acrofacial dysostosis Weyers type (WAD); also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. 3 isoforms of the human protein are produced by alternative splicing.Protein type: Membrane protein, integralChromosomal Location of Human Ortholog: 4p16.2Cellular Component: cytoskeleton; cytoplasm; integral to membrane; nucleus; ciliumBiological Process: smoothened signaling pathwayDisease: Weyers Acrofacial Dysostosis; Ellis-van Creveld Syndrome
UniProt Protein Details:
NCBI Summary:
This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]
