2025年3月30日 · HPS5 (HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2) is a Protein Coding gene. Diseases associated with HPS5 include Hermansky-Pudlak Syndrome 5 and Hermansky-Pudlak Syndrome. An important paralog of this gene is TECPR2.

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene. [5][6][7] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.

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 …

2017年8月1日 · Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies.

2024年6月17日 · Clinical resource with information about HPS5, An atlas of genetic influences on human blood metabolites., Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A., Hermansky-Pudlak syndrome 5, Human metabolic individuality in biomedical and pharmaceutical research ...

2025年2月9日 · HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature.

中文名称：HPS5 溶酶体细胞器复合物 2 亚基 2 的生物发生. 种属: Homo sapiens. 同用名: AIBP63; BLOC2S2

HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. Title: NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature.

这个蛋白质与Hermansky-Pudlak综合症6蛋白相互作用，可能还与整合素α3的胞质结构域相互作用。 这个基因的突变与Hermansky-Pudlak综合症5型有关。 已经在这个基因中鉴定出多种转录变异体，编码两种不同的异构体。 [由RefSeq，2008年7月提供] 这个基因编码的蛋白质可能在与黑色素体、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。 这个蛋白质与Hermansky-Pudlak综合症6蛋白相互作用，可能还与整合素α3的胞质结构域相互作用。 这个基因的突变 …

Genetic screening of 15 unassigned HPS patients yielded six new HPS5 mutations in four patients. Clinically, our HPS-5 patients exhibited iris transillumination, variable hair and skin pigmentation, and absent platelet dense bodies, but not …