Ask about this productRelated genes to: HPS3 antibody
- Gene:
- HPS3 NIH gene
- Name:
- HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
- Previous symbol:
- -
- Synonyms:
- SUTAL, BLOC2S1
- Chromosome:
- 3q24
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-13
- Date modifiied:
- 2019-04-23
Related products to: HPS3 antibody
Related articles to: HPS3 antibody
- Hermansky-Pudlak syndrome (HPS) is a rare multisystem disorder associated with defective biogenesis of lysosome-related organelles. Patient-reported symptoms in HPS have not been studied. - Source: PubMed
Publication date: 2026/05/15
Zuo Mei Xing GZuo Ben Long GO'Brien Kevin JFriedman ValerieAppell DonnaGahl William AMerideth Melissa AGochuico Bernadette R - We present an updated analysis of albinism in Japan, encompassing both oculocutaneous albinism (OCA) and ocular albinism (OA), based on 290 families, which expands our previous study by 100 additional families. The overall frequency distribution of major subtypes remained consistent with our previous findings: OCA4 remains the most prevalent subtype (67 patients, 23.1%), followed by OCA1 (57 patients, 19.7%), Hermansky-Pudlak syndrome (HPS) 1 (35 patients, 12.1%), and OCA2 (30 patients, 10.3%). Notably, our expanded analysis identified patients with rare subtypes, including OCA3, OCA6, HPS2, HPS3, HPS5, and HPS6, as well as OA, further demonstrating the genetic diversity of albinism in the Japanese population. Through comprehensive genetic screening of the additional 100 families, we identified 17 patients harboring previously unreported pathological variants across multiple albinism subtypes. These findings expand the variant spectrum of albinism in Japan, provide valuable insights for genetic counseling, and underscore the critical importance of comprehensive clinical evaluation and long-term multidisciplinary follow-up for patients with albinism, particularly those with HPS subtypes. - Source: PubMed
Okamura KenSaito ToruOiso NaokiSekiguchi AkikoMotegi Sei-IchiroHara YoshiakiKomine MayumiKudo KyokoNoguchi AtsushiOshimo TomokoShibuya MamiMiyano KyoheiHoshina TakayukiItokawa MariMasui YuriOtaki KaoruHozumi YutakaSuzuki Tamio - Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive syndromic type of albinism. It is characterized by oculocutaneous hypopigmentation, platelet dysfunction, and variable systemic involvement depending on the specific subtype. To date, eleven distinct HPS types have been identified, with HPS3 being among the milder forms. - Source: PubMed
Publication date: 2025/11/06
Chouman ChahnazSalhab SuzanaMartella SalvatoreMousawi ZahraaAssi AlexandreChebly AlainEl Shamieh Said - Diabetic retinopathy affects a substantial proportion of individuals with diabetes and, if not treated, may lead to acquired visual impairment or even blindness. An improved comprehension of the genetics of diabetic retinopathy (DR) is crucial in understanding the disease mechanisms. We aimed to identify rare and low-frequency variants predisposing to severe DR (SDR) in type 1 diabetes. - Source: PubMed
Vuori NadjaAntikainen Anni AHaukka Jani KHarjutsalo ValmaGroop Per-HenrikSandholm Niina - Amelogenesis imperfecta (AI) encompasses a group of conditions characterized by abnormalities in the development or function of tooth enamel. Clinical manifestations include different forms and degrees of enamel frailty, associated with sensitivity, tooth fractures, stains, abnormal tooth morphology, missing teeth, etc. AI is genetically heterogeneous, with over 70 genes associated with autosomal dominant, autosomal recessive, X-linked, and oligogenic inheritance. - Source: PubMed
Publication date: 2025/09/01
Lanza Célia Regina MoreiraRodrigues Artur MeloMascarenhas Iasmin Fonseca TolentinoSouza Talita Roberta Ferreira deReis Matheus OliveiraAvelar Felipe MorandoCarvalho Maria Raquel SantosAzevedo Vasco Ariston Carvalho deBarh Debmalya