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- accession：NM_152841
- 基因别名：LE
- 基因描述：Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：2112
- 翻译后氨基酸长度：703
- TranscriptVariant：This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
- 基因简介：This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
- 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
