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DTBP1 Rabbit Polyclonal Antibody, 50ul CellSafe™ Alternately spliced transcript variants have

SKU: 59924929145

4.1
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DTBP1 Rabbit Polyclonal Antibody, 50ul CellSafe™ Alternately spliced transcript variants haveThis 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

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Description

Alternately spliced transcript variants have been observed for this gene

including eotaxin (CCL11)

miscellaneous:The USP6 gene only exists in the primate lineage

Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia

and hence neuronal membrane excitability

DTBP1 Rabbit Polyclonal Antibody, 50ul CellSafe™ Alternately spliced transcript variants haveThis 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

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