- accession:NM_001199323
- 基因别名:BLOC1S5
- 基因描述:Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 5, muted (BLOC1S5), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:273
- 翻译后氨基酸长度:90
- TranscriptVariant:This variant (3) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.
- 基因简介:This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
- 规格:10ul 质粒
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