Anti-PORCN monoclonal antibody (DCABH-201284) Made to order

Rabbit anti-Human PORCN monoclonal antibody for WB, ELISA

View other PORCN antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human PORCN is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
PORCN; porcupine homolog (Drosophila); PPN; DHOF; FODH; MG61
Entrez Gene ID
UniProt ID

Product Background


Gene summary
PORCN (Porcupine Homolog (Drosophila)) is a Protein Coding gene. Diseases associated with PORCN include focal dermal hypoplasia and angioma serpiginosum. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include transferase activity, transferring acyl groups and palmitoleoyltransferase activity. This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed.
Antigen Description
This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. Focal dermal hypoplasia (FODH) [MIM:305600]: A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present. Note=The disease is caused by mutations affecting the gene represented in this entry. The function about PORCN antigen include transferase activity, transferring acyl groups.
Pathway
Signal Transduction; Signaling by Wnt; WNT ligand biogenesis and trafficking; Wnt signaling pathway.

Citations


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We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More

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References


Ross, J; Busch, J; et al. A Rare Human Syndrome Provides Genetic Evidence that WNT Signaling Is Required for Reprogramming of Fibroblasts to Induced Pluripotent Stem Cells. CELL REPORTS 9:1770-1780(2014).
Rios-Esteves, J; Haugen, B; et al. Identification of Key Residues and Regions Important for Porcupine-mediated Wnt Acylation. JOURNAL OF BIOLOGICAL CHEMISTRY 289:17009-17019(2014).

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