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.

Mar 30, 2025 · 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.

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.

Feb 9, 2025 · Gene ID: 84343, updated on 9-Feb-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.

Apr 17, 2002 · 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.

Nov 15, 2022 · Hermansky-Pudlak syndrome-3 (HPS3) is characterized by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet dense bodies. Clinically, affected individuals have a bleeding diathesis, horizontal nystagmus, decreased vision and very mild pigment dilution of hair, skin, and irides (summary by Anikster et al., 2001).

Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, and/or immunodeficiency.

Mar 26, 2004 · 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 ...

HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5, HPS6 and HPS7. [ citation needed ] HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene.

Oct 26, 2023 · Hermansky-Pudlak syndrome type 3 (HPS3) is a condition where people have lighter skin, hair, and eyes than others in their family (hypopigmentation). Individuals with HPS3 might also have vision problems and bleed easily.