EFCAB7 Antibody, Biotin conjugated
Description
Introduction
The EFCAB7 Antibody, Biotin conjugated is a specialized immunological reagent designed for detecting the EFCAB7 protein in research applications. EFCAB7 (EF-Hand Calcium-Binding Domain-Containing Protein 7) is a critical component of the EvC complex, which regulates Hedgehog (Hh) signaling pathways essential for embryonic development and ciliary function . This antibody’s biotin conjugation enhances its utility in assays requiring signal amplification, such as ELISA and Western blotting .
Applications
Research Findings
4.1. Role in Hedgehog Signaling
EFCAB7 interacts with IQCE to anchor the EVC-EVC2 complex at the base of primary cilia, a critical site for Hh signaling . Depletion of EFCAB7 disrupts this localization, impairing GLI2 activation and mimicking Weyers syndrome phenotypes .
4.2. Genetic Disorders
Homozygous frameshift mutations in EFCAB7 (e.g., c.830delG; p.(Gly277Valfs*5)) have been linked to nonsyndromic postaxial polydactyly, underscoring its role in limb development .
4.3. Ciliary Expression
EFCAB7 localizes to the EvC zone of primary cilia, where it regulates SMO-GLI signaling . Knockout models exhibit auditory defects and reduced ciliary protein levels .
Limitations and Considerations
Product Specs
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Target Background
- In a study of Vietnamese families with EvC, two novel nonsense mutations and a partial deletion of EVC/EVC2 were identified. Additionally, a missense mutation of EFCAB7 was found in one family, suggesting it may be a modifier gene in EvC and related disorders. PMID: 26748586
