- accession:NM_183040
- 基因别名:DTNBP1
- 基因描述:Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:912
- 翻译后氨基酸长度:303
- TranscriptVariant:This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a. This protein isoform is described by Talbot et al. (PMID:21390302).
- 基因简介: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]
- 规格:10ul 质粒
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