This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
ddPCR™ Evagreen assay for gene expression analysis. EvaGreen assays consist of unlabeled PCR primer.
Info: EG; Same primer pair as used in qPCR assay qHsaCED0042105; exonic
This 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 type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq Jul 2008]