Product Information
55367-1-PBS targets EVC2 in WB, IHC, Indirect ELISA applications and shows reactivity with human, mouse samples.
Tested Reactivity | human, mouse |
Host / Isotype | Rabbit / IgG |
Class | Polyclonal |
Type | Antibody |
Immunogen | Peptide Predict reactive species |
Full Name | Ellis van Creveld syndrome 2 |
Calculated Molecular Weight | 148 kDa |
Observed Molecular Weight | 140 kDa |
GenBank Accession Number | NM_147127 |
Gene Symbol | EVC2 |
Gene ID (NCBI) | 132884 |
Conjugate | Unconjugated |
Form | Liquid |
Purification Method | Antigen affinity purification |
UNIPROT ID | Q86UK5 |
Storage Buffer | PBS only, pH 7.3. |
Storage Conditions | Store at -80°C. |
Background Information
EVC2 (also known as LIMBIN) is close proximity in divergent orientation to EVC and mutations in both human genes lead to the chondrodysplasia Ellis-van Creveld (EvC) syndrome. Typical symptoms of EvC include shorter limbs and ribs, postaxial polydactyly, dysplastic nails, and cardiovascular defects (PMID: 28081373). Additionally, EvC syndrome has been characterized as a ciliopathy because the EVC and EVC2 proteins are intracellularly localized at the bottom of the primary cilium, where they form a heterotrimeric protein complex with SMO and transduce Hedgehog(Hh) signaling (PMID: 30410447). EVC2 is expressed in the heart, placenta, lung, liver, skeletal muscle, kidney, and pancreas. EVC2 has 3 isoforms with the molecular mass of 140-148 kDa.