- accession:NM_181508
- 基因别名:HPS5
- 基因描述:Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:3048
- 翻译后氨基酸长度:1015
- TranscriptVariant:This variant (3) differs in the 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) with a shorter N-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. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- 规格:10ul 质粒
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