2024年12月25日 · HPS6 (HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3) is a Protein Coding gene. Diseases associated with HPS6 include Hermansky-Pudlak Syndrome 6 and Hermansky-Pudlak Syndrome. Gene Ontology (GO) annotations related to this gene include small GTPase binding and GTP-dependent protein binding.

Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene. [5] This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. [6] .

2017年7月28日 · Hermansky-Pudlak syndrome-6 (HPS6) is characterized by a presentation of oculocutaneous albinism and bleeding diathesis. Nystagmus is usually present and bleeding problems may be mild (Zhang et al., 2003, Schreyer-Shafir et al., 2006).

2025年1月4日 · the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk.

赫尔曼斯基-普德拉克综合症6，也被称为hps6，与赫尔曼斯基-普德拉克综合症5和赫尔曼斯基-普德拉克综合症3有关，症状包括腹痛。 与赫尔曼斯基-普德拉克综合症6有关的重要基因是HPS6（HPS6生物合成溶酶体器官复合物2亚基3）。

2022年2月17日 · In this study, we found that the knockdown of HPS6 in human umbilical vein endothelial cells (HUVECs) resulted in misshaped WPBs, decreased WPB number, and impaired vWF tubulation, which are similar to the characteristics of HPS6-deficient mouse endothelial cells.

中文名称：HPS6 溶酶体细胞器复合物 2 亚基 3 的生物发生. 种属: Homo sapiens. 同用名: BLOC2S3

2025年2月19日 · This study analyzed the plasma lipid profiles of three HPS mutant mice, pa (Hps9 (-/-)), ru (Hps6 (-/-)), ep (Hps1 (-/-)), and wild-type (WT) mice. The findings may provide clues to explain why different HPS mutant mice exhibit distinct anti-atherosclerotic or atherogenic effects after being exposed to high-cholesterol diets.

2024年9月19日 · Clinical resource with information about HPS6, Hermansky-Pudlak syndrome 6, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2017年7月28日 · The HPS6 gene encodes a protein involved in the biogenesis of lysosome-related organelles complex-2 (BLOC2) (Zhang et al., 2003). In mice there are at least 16 naturally occurring hypopigmentation models of Hermansky-Pudlak syndrome (HPS; 203300), and 9 of these have been characterized at the molecular level.