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ID 922

DTNBP1 Gene

Description:
Dysbindin expression is decreased in schizophrenia, and RNAi knockdown of DTNBP1 reduces glutamate levels in cultured cells.
Transcript:
Dystrobrevin-binding Protein 1 (DTNBP1, dysbindin) is widely distributed in muscle and brain tissue, and is involved in the biogenesis of lysosome-related organelles. The protein is part of the dystrophin-associated protein complex (DPC) involved in the development of muscular dystrophy. Dysbindin mutations are a cause of Hermansky-Pudlak syndrome, a rare form of albinism coupled with bleeding disorders, but having no neurological symptoms. Dysbindin expression is decreased in schizophrenia, and RNAi knockdown of DTNBP1 reduces glutamate levels in cultured cells. However, no mutations have yet been identified in coding regions of the gene that are related to schizophrenia. Differential processing of the mRNA produces several DTNBP isoforms.
Keywords:
gene, schizophrenia, schizophrenic, Dystrobrevin, binding, Protein 1, DTNBP1, dysbindin, biogenesis, DPC, muscular, dystrophy, Hermansky, Pudlak, syndrome, albinism, albino
Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

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