DTNBP1 gene codes for dysbindin (dystrobrevin-binding protein 1).
Pathology
mutations in the Hermansky-Pudlak disease (Locus HPS7)(MIM.203300)
variants in in schizophrenia (12474144, 12098102)
References
Li, W.; Zhang, Q.; Oiso, N.; Novak, E. K.; Gautam, R.; O’Brien, E. P.; Tinsley, C. L.; Blake, D. J.; Spritz, R. A.; Copeland, N. G.; Jenkins, N. A.; Amato, D.; Roe, B. A.; Starcevic, M.; Dell’Angelica, E. C.; Elliott, R. W.; Mishra, V.; Kingsmore, S. F.; Paylor, R. E.; Swank, R. T. : Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nature Genet. 35: 84-89, 2003. PubMed ID : 12923531