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 .

Mar 30, 2025 · 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.

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

HPS-5 (MIM# 614074) is caused by biallelic pathogenic variants in HPS5, also called BLOC2S2, located on chromosome 11p15.1. The longest HPS5 mRNA transcript contains 23 exons, encoding a 1129-amino acid protein (~127.4-kD). There are 3 HPS5 protein-coding mRNA variants described, each with alternatively spliced 5’ exons (Huizing et al., 2004).

Jun 17, 2024 · Go to Variation Viewer for HPS5 variants Summary This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.

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

Feb 9, 2025 · 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.

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 …

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and …

Aug 1, 2017 · HGNC Approved Gene Symbol: HPS5. Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38) : 11:18,278,670-18,322,174 (from NCBI) By screening clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1999) identified HPS5 as KIAA1017.