Protocadherin 19

Alternative Names

  • PCDH19
  • KIAA1313

Associated Diseases

Autism
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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

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001184880.2:c.2360G>TLebanonNC_000023.11:g.100402780C>AUncertain SignificanceUncertain SignificanceAutismNG_021319.1:g.12494G>T; NM_001184880.2:c.2360G>T; NP_001171809.1:p.Arg787Leu3718397981054784
NM_001184880.2:c.3070G>ALebanonNC_000023.11:g.100296654C>TUncertain SignificanceAutismNG_021319.1:g.118620G>A; NM_001184880.2:c.3070G>A; NP_001171809.1:p.Asp1024Asn1278838206
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