HPS1

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Details

HGNC: HGNC:5163
GeneCards: HPS1
NCBI: 3257
Ensembl: ENSG00000107521
UniProt: Q92902
OMIM: 604982
UCSC: uc057vhe.1
VEGA: OTTHUMG00000018876
ENA: U79136

Alias Symbols: BLOC3S1
Previous Symbols: HPS
Alias Names: None
Previous Names: "Hermansky-Pudlak syndrome", "Hermansky-Pudlak syndrome 1"

Associated Studies

Transcriptional reprogramming primes CD8+ T cells toward exhaustion in Myalgic encephalomyelitis/chronic fatigue syndrome

2024 | Iu, David S.; Maya, Jessica; Vu, Luyen T.; Fogarty, Elizabeth A.; McNairn, Adrian J.; Ahmed, Faraz; Franconi, Carl J.; Munn, Paul R.; Grenier, Jennifer K.; Hanson, Maureen R.; Grimson, Andrew

Associated cohorts
Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - IOM (Institute of Medicine) 2015 criteria, Post-exertional malaise (PEM)