PCDH19

protocadherin 19

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Potential calcium-dependent cell-adhesion protein.

From NCBI Gene:

  • Early infantile epileptic encephalopathy 9

From UniProt:

Epileptic encephalopathy, early infantile, 9 (EIEE9): 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. [MIM:300088]

Cytogenetic Location: Xq22.1, which is the long (q) arm of the X chromosome at position 22.1

Molecular Location: base pairs 100,291,644 to 100,410,273 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq22.1, which is the long (q) arm of the X chromosome at position 22.1
  • EFMR
  • EIEE9