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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GPAM
glycerol-3-phosphate acyltransferase, mitochondrial
Chromosome 10 · 10q25.2
NCBI Gene: 57678Ensembl: ENSG00000119927.15HGNC: HGNC:24865UniProt: Q8N1G6
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glycerol-3-phosphate O-acyltransferase activityprotein bindingphosphatidylglycerol biosynthetic processtriglyceride biosynthetic processalcohol drinkingcirrhosis of liverliver diseaseAbnormality of the liver
✦AI Summary

GPAM (glycerol-3-phosphate acyltransferase, mitochondrial) is a mitochondrial membrane protein catalyzing the first committed step of glycerolipid biosynthesis. It esterifies acyl-CoA to the sn-1 position of glycerol-3-phosphate, generating lysophosphatidic acid, a precursor for triglycerides and phosphatidic acids 1. The enzyme possesses a narrow hydrophobic binding cleft with substrate preference for 16-carbon acyl chains 2. GPAM function is centrally implicated in hepatic lipid metabolism and metabolic liver disease. Genome-wide association studies identify GPAM variants as associated with nonalcoholic fatty liver disease (NAFLD) risk across diverse ancestries 3, with rare loss-of-function variants showing protective effects 4. Notably, GPAM undergoes frequent convergent somatic mutations in chr10 liver disease, with mutations in up to seven independent hepatocyte clones per patient in both alcohol-related and non-alcoholic fatty liver disease, suggesting positive selection for clonal fitness 5. Clinically, GPAM represents a genetically validated therapeutic target. Rare coding variants in GPAM associate with lower alanine aminotransferase levels 6, indicating that GPAM inhibition may provide hepatoprotective benefits. Beyond liver disease, hypomorphic GPAM mutations cause hypomyelination of corticospinal tracts in cerebral palsy through disrupted astrocytic lipid metabolism 7, highlighting its broader physiological importance in lipid-dependent neural development.

Sources cited
1
GPAM catalyzes the first step of glycerolipid biosynthesis by esterifying acyl-CoA to glycerol-3-phosphate to produce lysophosphatidic acid
PMID: 18238778
2
GPAM has a narrow hydrophobic binding cleft selecting for linear acyl chains with higher activity for 16-carbon substrates
PMID: 36522428
3
GPAM variants are associated with NAFLD risk across diverse ancestries in genome-wide association meta-analysis
PMID: 37709864
4
Rare protective loss-of-function variants in GPAM are identified in NAFL and cirrhosis, positioning it as a potential drug target
PMID: 36280732
5
GPAM undergoes frequent convergent somatic mutations in chronic liver disease with up to seven independent clones per patient showing positive selection
PMID: 34646017
6
Rare coding variants in GPAM associate with lower ALT levels, supporting GPAM as a therapeutic inhibition target
PMID: 38632349
7
Hypomorphic GPAM mutations cause hypomyelination and disrupted lipid metabolism in astrocytes, leading to cerebral palsy with intellectual disability
PMID: 34077496
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.46Moderate
cirrhosis of liverOpen Targets
0.43Moderate
liver diseaseOpen Targets
0.43Moderate
Abnormality of the liverOpen Targets
0.40Weak
metabolic syndromeOpen Targets
0.35Weak
hearing lossOpen Targets
0.33Weak
physical activityOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.27Weak
Abnormality of limbsOpen Targets
0.20Weak
glomerulonephritisOpen Targets
0.16Weak
kidney transplantOpen Targets
0.15Weak
EpiphoraOpen Targets
0.14Weak
facial painOpen Targets
0.13Weak
Graves diseaseOpen Targets
0.13Weak
idiopathic pulmonary fibrosisOpen Targets
0.13Weak
diabetic ketoacidosisOpen Targets
0.12Weak
male reproductive organ cancerOpen Targets
0.12Weak
vascular diseaseOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DGAT1Protein interaction100%GKProtein interaction100%GK2Protein interaction100%GPD1Protein interaction100%GPD2Protein interaction100%GPD1LProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
16%
Bone Marrow
10%
Brain
7%
Ovary
5%
Lung
3%
Gene Interaction Network
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GPAMDGAT1GKGK2GPD1GPD2GPD1L
PROTEIN STRUCTURE
Preparing viewer…
PDB8E4Y · 3.40 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.38–0.75]
RankingsWhere GPAM stands among ~20K protein-coding genes
  • #8,680of 20,598
    Most Researched51
  • #5,901of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedGPAM
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TXNIP/VDUP1 attenuates steatohepatitis via autophagy and fatty acid oxidation.
PMID: 33190588
Autophagy · 2021
1.00
2
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease.
PMID: 37709864
Nat Genet · 2023
0.90
3
Multiomics study of nonalcoholic fatty liver disease.
PMID: 36280732
Nat Genet · 2022
0.80
4
Convergent somatic mutations in metabolism genes in chronic liver disease.
PMID: 34646017
Nature · 2021
0.70
5
Positive selection of somatically mutated clones identifies adaptive pathways in metabolic liver disease.
PMID: 37040760
Cell · 2023
0.60