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| Cat.No | ACP13631 | Target Name | PCDH19 |
|---|---|---|---|
| Target Synonyms | KIAA1313; PCD19_HUMAN; PCDH19; Protocadherin 19; Protocadherin-19 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Protein Length | Partial |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q8TAB3 |
|---|
Uniprot Id
Q8TAB3
Target Species
Human
Target Name
PCDH19
Target Full Name
Protocadherin-19
Target Function
Potential calcium-dependent cell-adhesion protein.
Target Involvement
Epileptic encephalopathy, early infantile, 9 (EIEE9)
Target Subcellular Location
Cell membrane; Single-pass type I membrane protein.
Target Tissue Specificity
Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.
Target Synonyms
KIAA1313; PCD19_HUMAN; PCDH19; Protocadherin 19; Protocadherin-19
Target Background
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene.
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