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Human gene on the 22nd chromosome
Patatin-like phospholipase domain-containing protein 3 (PNPLA3), also known as adiponutrin (ADPN), acylglycerol O-acyltransferase or calcium-independent
PNPLA3
Medical condition where fat accumulates in the liver
and increased prevalence of homozygosity for the PNPLA3 rs738409 single nucleotide polymorphism. PNPLA3 rs738409 is already a known risk factor for NAFLD
Fatty_liver_disease
for the full spectrum of progressive liver disease, at rs738409 in the PNPLA3 gene, and was compound heterozygous for two type-1 classical hereditary
Death_of_Ludwig_van_Beethoven
American medical researcher
liver cancer. Their laboratory has shown that mutation in PNPLA3 causes accumulation of PNPLA3 on lipid droplets, which compromises the mobilization of
Helen_Hobbs
Pharmaceutical Company
890 Cardiovascular disease In clinic, phase 3 Partnered with Amgen ARO-PNPLA3 NASH In clinic, Phase 1 License returned to ARWR ARO-HSD NASH In clinic
Arrowhead_Pharmaceuticals
Pharmaceutical compound
AstraZeneca for the treatment of non-alcoholic fatty liver disease based on the PNPLA3 gene, believed to be the largest single genetic risk factor for this condition
AZD2693
Enzyme found in humans
or degradation of the proteins Bax inhibitor 1, TGF beta receptor 1, and PNPLA3. Enables caspase binding activity; protein-macromolecule adaptor activity;
Bifunctional apoptosis regulator
Bifunctional_apoptosis_regulator
Rare genetic syndrome
KIAA0930 NUP50 PHF21B PRR5-ARHGAP8 LDOC1L KIAA1644 PARVG TRNA_SeC PARVB SAMM50 PNPLA3 PNPLA5 SULT4A1 EFCAB6 MPPED1 SCUBE1 TTLL12 TSPO MCAT BIK TTLL1 PACSIN2 ARFGAP3
22q13_deletion_syndrome
Excessive fat buildup in the liver with other metabolic disease
associated with MASLD: non-synonymous single-nucleotide polymorphisms (SNPs) in PNPLA3 and TM6SF2. Both correlate with MASLD presence and severity, but their roles
Metabolic dysfunction–associated steatotic liver disease
Metabolic_dysfunction–associated_steatotic_liver_disease
Protein family
Protein of unknown function UPF0028 InterPro: IPR001423 PNPLA1; PNPLA2; PNPLA3; PNPLA4; PNPLA5; PNPLA6; PNPLA7; PNPLA8; Mignery GA, Pikaard CS, Park WD
Patatin-like_phospholipase
Human chromosome
pseudogene 2 PISD: encoding enzyme phosphatidylserine decarboxylase proenzyme PNPLA3: encoding enzyme patatin-like phospholipase domain-containing protein 3
Chromosome_22
Medical condition
risk of alcohol-associated hepatitis. Certain genetic variations in the PNPLA3-encoding gene, which codes for an enzyme involved in triglyceride metabolism
Alcoholic_hepatitis
Award
cholesterol-lowering medicines. Her team also discovered variations in the PNPLA3 and TM6SF2 genes that increase the risk of fatty liver disease and other
Abarca_Prize
P00491 12437 PNPLA1 HGNC:21246; Q8N8W4 12438 PNPLA2 HGNC:30802; Q96AD5 12439 PNPLA3 HGNC:18590; Q9NST1 12440 PNPLA4 HGNC:24887; P41247 12441 PNPLA5 HGNC:24888;
List of human protein-coding genes 6
List_of_human_protein-coding_genes_6
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