MPDZ

Molecular characteristics

MPDZ is a gene that produces a protein involved in maintaining proper cell-cell adhesion. This is essential for maintaining the integrity of the blood-brain barrier, a highly selective membrane separating the blood from the cerebrospinal fluid and maintaining the proper circulation of cerebrospinal fluid in the ventricles of the brain. Mutations in MPDZ may cause the clinical manifestations described in the Clinical Characteristics section.