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].
Mizrachi Nebenzahl, Blau, Kushnir, Shagan, Portnoi, Cohen, Azriel, Malka, Adawi, Kafka, Dotan, Guterman, Troib, Fishilevich, Gershoni, Braiman, Mitchell, Mitchell, Porat, Goliand, Chalifa Caspi et al.: "Streptococcus pneumoniae Cell-Wall-Localized Phosphoenolpyruvate Protein Phosphotransferase Can Function as an Adhesin: Identification of Its Host Target Molecules and Evaluation of Its Potential as ..." in: PLoS ONE, Vol. 11, Issue 3, pp. e0150320, (2016) (PubMed).