PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

Details

HGNC: HGNC:8574
GeneCards: PAFAH1B1
NCBI: 5048
Ensembl: ENSG00000007168
UniProt: P43034
OMIM: 601545
UCSC: uc002fuw.5
VEGA: OTTHUMG00000177574
ENA: L25107
Alias Symbols: LIS1, PAFAH, NudF
Previous Symbols: MDCR, MDS
Alias Names: "lissencephaly-1"
Previous Names: "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)", "platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"

Associated Studies

HERV activation segregates ME/CFS from fibromyalgia while defining a novel nosologic entity

2025 | Giménez-Orenga, Karen; Martín-Martínez, Eva; Nathanson, Lubov; Oltra, Elisa

Associated cohorts
Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)
Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria

Extracellular vesicle proteomics uncovers energy metabolism, complement system, and endoplasmic reticulum stress response dysregulation postexercise in males with myalgic encephalomyelitis/chronic fatigue syndrome

2025 | Glass, Katherine A.; Giloteaux, Ludovic; Zhang, Sheng; Hanson, Maureen R.

Associated cohorts
Phenotype: ME/CFS, ME/CFS - CCC criteria, Post-exertional malaise (PEM)