DTBP1 Rabbit Polyclonal Antibody, 50ul CellSafe™ a disorder characterized by short

a disorder characterized by short stature

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is deadly and the few who survive past one year suffer from permanent neurologic defects

Alternately spliced transcript variants have been observed for this gene

DTBP1 Rabbit Polyclonal Antibody, 50ul CellSafe™ a disorder characterized by shortThis gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes platelet dense granules and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome related organelles complex 1 (BLOC 1) and binds to alpha and beta dystrobrevins which are components of the dystrophin associated protein complex (DPC). Mutations in this gene are associated with Hermansky Pudlak syndrome