PCDH19 (NM_020766) - protocadherin 19
Protocadherin-19 Isoform B Precursor
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Protein
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Protein 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].
- Strand
- -
- Chromosome
- X
- Protein
- 1100 residues
- All mutations
- 328
- PTM sites
- 11
- CDS
- 99,551,274 - 99,663,595
- Transcription
- 99,546,641 - 99,665,271
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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