| Symbol: Name: ID: |
PCDH19 protocadherin 19 GFS:3635 |
| Gene name: | PCDH19 |
| Chromosome: | Xq22.1 |
| Previous Symbols: | EFMR |
| Previous Names: | epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) |
| Aliases: | KIAA1313, EIEE9 |
| Name Aliases: | |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:2685563 | Rat Genome Database ID: | RGD:1565392 |
| HGNC ID: | HGNC:14270 | RefSeq IDs: | NM_001105243 |
| Entrez Gene ID: | 57526 | Ensembl Gene ID: | ENSG00000165194 |
| VEGA IDs: | OTTHUMG00000022000 | UniProt ID: | Q8TAB3 |
| UCSC ID: | uc004efx.3 | OMIM ID: | 300460 |
| Pubmed: | PMID11549318 PMID 18469813 PMID 19752159 | ||
| CCDS IDs: | CCDSCCDS43976.1 CCDS CCDS48141.1 | ||
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. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].
Function: Potential calcium-dependent cell-adhesion protein.
Products for PCDH19 gene
| Catalog | Product Name | Application | Company |
| GFS:E03635 | protocadherin 19; ELISA kit | ELISA | n/a |
| GFS:A03635 | protocadherin 19; Anti | ANTIBODIES | n/a |
| GFS:P03635 | protocadherin 19; Protien | Protien | n/a |
