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- accession：NM_182639
- 基因别名：HPS1
- 基因描述：Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 3, mRNA.
- 载体：现货载体
- CDS区长度：975
- 翻译后氨基酸长度：324
- TranscriptVariant：This variant (3) differs in the 5' UTR and uses an alternate 3' coding region compared to variant 1. It encodes isoform c, which has a shorter and distinct C-terminus compared to isoform a.
- 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. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
