2025年3月30日 · HPS3 (HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1) is a Protein Coding gene. Diseases associated with HPS3 include Hermansky-Pudlak Syndrome 3 and Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency .

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene. [5] [6] This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage.

2022年8月20日 · Hermansky-Pudlak 综合征 (HPS) 是一种罕见的遗传性疾病，由两个特征组成：色素沉着减少（白化病）伴视力障碍，以及血小板功能障碍伴长期出血。 一些患者患有肺纤维化、结肠炎或身体各组织中脂肪样物质（蜡样脂褐质）的异常储存。 二、症状与体征. HPS 的最初症状通常包括容易瘀伤、牙龈出血、流鼻血以及手术或事故后出血过多。 Hermansky-Pudlak 综合征的典型症状包括皮肤、头发和眼睛缺乏颜色（色素沉着）（眼皮肤白化病），以及导致长时间 …

The HPS3 gene provides instructions for making a protein that forms part of a complex called biogenesis of lysosome-related organelles complex-2 (BLOC-2). Learn about this gene and related health conditions.

2023年11月23日 · HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3.

2025年2月9日 · Gene ID: 84343, updated on 4-Jan-2025. This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage.

2004年3月26日 · Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome-related organelles. The Hps3, Hps5, and Hps6 genes are mutated in the cocoa, ruby-eye-2, and ruby-eye mouse pigment mutants, respectively, and their human orthologs are mutated in HPS3, HPS5, and HPS6 patients. These ...

该基因编码的蛋白质含有潜在的网格蛋白结合基序、共有双亮氨酸信号和基于酪氨酸的分选信号，用于靶向溶酶体谱系的囊泡。 编码的蛋白质可能在与黑素体、血小板致密颗粒和溶酶体相关的细胞器生物发生中发挥作用。 该基因的突变与 3 型 Hermansky-Pudlak 综合征有关。 [RefSeq 提供，2015 年 4 月] This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of …

这个基因编码一个含有潜在的内吞体结合基序、保守的二亮氨酸信号和基于酪氨酸的分类信号的蛋白质，用于靶向溶酶体谱系的囊泡。 编码的蛋白质可能在与黑色素体、血小板密集颗粒和溶酶体相关的细胞器生物发生中发挥作用。 这个基因的突变与赫曼斯基-帕杜拉克综合症3型有关。 [RefSeq,2015年4月提供] 该基因暂未发现相关的转录本和蛋白质序列信息。 该模块正在开发中，请耐心等待我们的数据更新。 A tissue-specific atlas of mouse protein phosphorylation and …

2002年4月17日 · Within this region they identified a novel gene, designated HPS3, predicted to encode a deduced 1,004-amino acid protein with a molecular mass of 113.7 kD and a pI of 6.01.