Diseases associated with lrrk2 include parkinson disease 8, autosomal dominant and parkinson's disease. Function, proteins, disorders, pathways, orthologs, and expression. This gene encodes a member of the cytochrome p450 superfamily of enzymes The cytochrome p450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (ajs) Ajs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells.
Complete information for grin2a gene (protein coding), glutamate ionotropic receptor nmda type subunit 2a, including Complete information for kmt2a gene (protein coding), lysine methyltransferase 2a, including A missense mutation in this gene causes myoclonus dystonia Other mutations have been associated with schizophrenia Alternative splicing of this gene results in two transcript variants encoding different isoforms.
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