| No | Size | Price | Availability | |
| YRP11287-01 | 50ul | 1500.00 | In Stock |  |
| YRP11287-01 | 100ul | 2000.00 | In Stock | |
| Source: | Rabbit | Gene Id: | |
| Isotype: | IgG | Swiss Prot: | |
| purity: | Purified by Protein A. |
| Background: |
| EVC is an autosomal skeletal dysplasia caused by mutations in the EVC and EVC2 genes. Found in developing ribs, heart, kidney and lung, the EVC gene is responsible for normal development of the face, limbs, teeth and nails. The protein expressed by the EVC gene is an intracellular component of the hedgehog signal pathway that contains a leucine zipper and transmembrane domain. Defects in the EVC gene can lead to short-limb dwarfism, ectodermal dysplasia and cardiac anomalies such as irregular atrioventricular septum development. Additionally, the EVC gene has been implicated in Weyers acrodental dysostosis, an autosomal dominant disease characterized by facial abnormalities and limb defects. |
| Reactivity | Human |
| Tested applications | WB IHC IF |
| Clonality | Polyclonal Antibody |
| Calculated MW | / |
| Recommended Dilutions |
WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
|
| Immunogen | KLH conjugated synthetic peptide derived from human EVC1 |
| Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
| Synonym | Ellis van Creveld syndrome DWF 1, DWF1, Ellis van Creveld syndrome protein, Ellis-van Creveld syndrome, EVC, EVC1, EVC 1, EVC-1, EVCL, MGC105107, EVC_HUMAN. |
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