| UniProt Protein Function: | PCDH19: Potential calcium-dependent cell-adhesion protein. Defects in PCDH19 are the cause of epileptic encephalopathy early infantile type 9 (EIEE9); also known as epilepsy female-restricted with mental retardation. A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Cell adhesion; Membrane protein, integral Chromosomal Location of Human Ortholog: Xq22.1 Cellular Component: integral to membrane; plasma membrane Molecular Function:calcium ion binding Biological Process: homophilic cell adhesion Disease: Epileptic Encephalopathy, Early Infantile, 9 |
| NCBI Summary: | 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] |
| UniProt Code: | Q8TAB3 |
| NCBI GenInfo Identifier: | 157426847 |
| NCBI Gene ID: | 57526 |
| NCBI Accession: | NP_001098713.1 |
| UniProt Secondary Accession: | Q8TAB3,Q5JTG1, Q5JTG2, Q68DT7, Q9P2N3, B0LDS4, E9PAM6 |
| UniProt Related Accession: | Q8TAB3 |
| Molecular Weight: | 121,014 Da |
| NCBI Full Name: | protocadherin-19 isoform a |
| NCBI Synonym Full Names: | protocadherin 19 |
| NCBI Official Symbol: | PCDH19 |
| NCBI Official Synonym Symbols: | EFMR; EIEE9 |
| NCBI Protein Information: | protocadherin-19 |
| UniProt Protein Name: | Protocadherin-19 |
| Protein Family: | Protocadherin |
| UniProt Gene Name: | PCDH19 |
| UniProt Entry Name: | PCD19_HUMAN |
