protocadherin-19 (PCDH19 KIAA1313)

Function

• Ca+2-dependent cell-adhesion protein

Structure

contains 6 cadherin domains

Compartment

• cell membrane
• single-pass type 1 membrane protein (putative)

Alternative splicing

• named isoforms=2
• gene prediction based on EST data

Expression

• moderately expressed in all regions of the brain examined
• lowest levels found in the cerebellum
• moderate expression is also found in ovary
• low expression in all other tissues tested
• also detected in primary skin fibroblast
• expressed in developing cortical plate, amygdala & subcortical regions & in the ganglionic eminence

Pathology

• defects in PCDH19 are the cause of epilepsy female-restricted with mental retardation

More general terms

• protocadherin (PCDH)
• phosphoprotein

Additional terms

• cadherin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=392509
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57526
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57526
• OMIM: https://mirror.omim.org/entry/300088
• OMIM: https://mirror.omim.org/entry/300460
• UniProt: http://www.uniprot.org/uniprot/Q8TAB3.html