人 HPS4 (NM_152841) cDNA克隆

基本信息

Accession: NM_152841
基因名称: HPS4
基因别名: LE
基因描述: Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2112 (查看编码区序列)
翻译后氨基酸长度: 703 (查看氨基酸序列)
Transcript Variant: 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.

订购信息

产品编号 产品名称 载体 规格 价格
G167062 人 HPS4 (NM_152841) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 HPS4 (NM_022081) cDNA克隆 transcript variant 1
人 HPS4 (NM_152841) cDNA克隆 transcript variant 2

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]

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