PCDH19
Gene Information
- Official Symbol: PCDH19
- Official Name: protocadherin 19
- Aliases and Previous Symbols: N/A
- Entrez ID: 57526
- UniProt: Q8TAB3
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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. 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. [provided by RefSeq, Jul 2017].
- UniProt Summary: Potential calcium-dependent cell-adhesion protein.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 6917
- Expression level (log2 read counts): -3.42