Protocadherin 19

Alternative Names

  • PCDH19
  • KIAA1313
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OMIM Number

300460

NCBI Gene ID

57526

Uniprot ID

Q8TAB3

Length

118,630 bases

No. of Exons

6

No. of isoforms

3

Protein Name

Protocadherin-19

Molecular Mass

126253 Da

Amino Acid Count

1148

Genomic Location

chrX:100,291,644-100,410,273

Gene Map Locus
Xq22.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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