Human EFHC1 Matched Antibody Pair set for ELISA useCapture Antibody: Rabbit purified polyclonal anti-EFHC1Detection Antibody: Mouse polyclonal anti-EFHC1
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Antigen Detail | |
|---|---|
| Target | EFHC1 |
| Description | EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene. EFHC1 variants initially thought to be pathogenic in epilepsy were found in unaffected controls of the same ancestry so that this is not a likely epilepsy gene. |
| Species Reactivity | Human |
Capture Antibody | |
|---|---|
| Capture Clonality | Polyclonal |
| Host Species | Rabbit |
| Purification | Affinity chromatography |
| Buffer | PBS, pH 7.4, containing 0.1% Proclin 300 |
| Application | ELISA |
Detection Antibody | |
|---|---|
| Det-Clonality | Polyclonal |
| Host Species | Mouse |
| Conjugation | Unconjugated |
| Purification | Affinity chromatography |
| Buffer | PBS, pH 7.4 |
General Product Property | |
|---|---|
| Product Overview | Human EFHC1 Matched Antibody Pair set for ELISA use Capture Antibody: Rabbit purified polyclonal anti-EFHC1 Detection Antibody: Mouse polyclonal anti-EFHC1 |
| Specificity | Validated for detecting natural and recombinant human EFHC1 |
| Research Area | Neurotransmission |
| Application | ELISA |
| Application Notes | Optimal dilutions should be determined experimentally by the user. |
| Form | Lyophilized |
| Storage | Avoid repeated freeze/thaw cycles. Store at 2-8°C for short term. Aliquot and store at -20°C for long term storage. |
| Size | 1 Set |
| Sample Type | Serum; Supernatant; Urine; Cell lysate; Plasma; Tissue Homogenates |
| Usage Statement | Available for Research Use Only. Not for use in therapeutic or diagnostic applications. |
Target Overview | |
|---|---|
| Gene Symbol | EFHC1 |
| Full Name | EF-Hand Domain Containing 1 |
| Background | This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. |
| Alternative Names | Myoclonin-1; RIB72 |
| Gene ID | 114327 |
| Uniprot ID | Q5JVL4 |
| GeneCards | EFHC1 |
| HGNC | 16406 |
| Ensembl | ENSG00000096093 |
| OMIM | 608815 |
| Involvement in Disease | Diseases associated with EFHC1 include Epilepsy, Myoclonic Juvenile and Epilepsy, Juvenile Absence 1. |
| Function | Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). |
For Research Use Only.
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