Caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,Disease:Defects in DTNBP1 are the cause of Hermansky-Pudlak syndrome type 7 (HPS7) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.,Function:Plays a role in the biogenesis of lysosome-related organelles such as platelet dense granule and melanosomes.,similarity:Belongs to the dysbindin family.,subcellular location:Associated with endosomes, pre-synaptic vesicle membranes and microtubules.,subunit:Part of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Interacts with PLDN, SNAPIN and MUTED. Binds to DTNA and DTNB but may not be a physiological binding partner.,
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