人 BLOC1S5 (NM_001199323) cDNA克隆

Accession: NM_001199323
基因名称: BLOC1S5
基因别名: MU; BLOS5; MUTED
基因描述: Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 5, muted (BLOC1S5), transcript variant 3, mRNA.
种属: Human
CDS区长度: 273 (查看编码区序列)
翻译后氨基酸长度: 90 (查看氨基酸序列)
Transcript Variant: 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.
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G123939 人 BLOC1S5 (NM_001199323) cDNA克隆 pDONR223 2ug质粒 点击询价

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]