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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PM20D1
peptidase M20 domain containing 1
Chromosome 1 · 1q32.1
NCBI Gene: 148811Ensembl: ENSG00000162877.13HGNC: HGNC:26518UniProt: Q6GTS8
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
amino acid metabolic processlipid metabolic processextracellular exosomehydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidesAbnormality of the skeletal systematrial fibrillationParkinson diseasetype 2 diabetes mellitus
✦AI Summary

PM20D1 is a secreted peptidase M20 domain-containing enzyme that functions as a bidirectional N-fatty acyl amino acid (NAA) synthase/hydrolase, regulating tissue and circulating NAA levels 1. The enzyme condenses free fatty acids and amino acids to generate NAAs, which stimulate oxidative metabolism and increase energy expenditure through UCP1-independent mitochondrial uncoupling 2. PM20D1 circulates in tight association with lipoproteins that co-activate its enzymatic activity, while serum albumin serves as a physiologic NAA carrier regulating the bioavailability of thermogenic lipids 3. Genetically, natural variants in the PM20D1 promoter and downstream regions significantly influence gene expression across tissues including brown adipose tissue, muscle, and liver, impacting cold tolerance and body mass 4, 2. Enhanced PM20D1 expression promotes muscle mass and function, making it a promising pharmacological target for sarcopenia 5. Clinically, PM20D1 demonstrates neuroprotective roles in neurodegenerative diseases. The PM20D1-NADA pathway protects against Parkinson's disease by inhibiting α-synuclein aggregation and reducing neuronal degeneration 6. PM20D1 is also associated with Alzheimer's disease risk through genetic-epigenetic interactions, with PM20D1 upregulation providing neuroprotection 7, 8. Additionally, reduced serum PM20D1 levels are associated with poor prognosis in idiopathic pulmonary arterial hypertension patients 9.

Sources cited
1
PM20D1 functions as bidirectional NAA synthase/hydrolase condensing fatty acids and amino acids
PMID: 27374330
2
NAAs bind mitochondria as uncouplers independent of UCP1; PM20D1 variants affect thermogenesis and metabolism
PMID: 40877813
3
PM20D1 circulates with lipoproteins that co-activate its activity; albumin regulates NAA bioavailability
PMID: 32402239
4
PM20D1 genetic variants in promoter and downstream regions determine expression across tissues
PMID: 31659023
5
PM20D1 enhances muscle mass and function; potential drug target for sarcopenia
PMID: 39117060
6
PM20D1-NADA pathway inhibits α-synuclein aggregation and protects against Parkinson's disease
PMID: 39174646
7
PM20D1 is methylation and expression QTL associated with Alzheimer's disease; genetically increasing PM20D1 reduces AD pathologies
PMID: 29736028
8
PM20D1 is upregulated by amyloid-β and reactive oxygen species; neuroprotective when overexpressed in AD context
PMID: 32014019
9
Reduced serum PM20D1 levels associated with poor prognosis in idiopathic pulmonary arterial hypertension patients
PMID: 38614995
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.53Moderate
atrial fibrillationOpen Targets
0.41Moderate
Parkinson diseaseOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
nephrolithiasisOpen Targets
0.15Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
Abnormality of the immune systemOpen Targets
0.05Suggestive
idiopathic pulmonary arterial hypertensionOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
substance abuseOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NUCKS1Protein interaction93%SLC41A1Protein interaction92%RAB29Protein interaction92%SLC45A3Protein interaction81%ASS1Protein interaction73%FADS6Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Ovary
54%
Lung
24%
Bone Marrow
21%
Liver
15%
Brain
7%
Gene Interaction Network
Click a node to explore
PM20D1NUCKS1SLC41A1RAB29SLC45A3ASS1FADS6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6GTS8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.92 [0.73–1.18]
RankingsWhere PM20D1 stands among ~20K protein-coding genes
  • #14,230of 20,598
    Most Researched20
  • #12,334of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedPM20D1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identifying genetic determinants of sarcopenia-related traits: a Mendelian randomization study of druggable genes.
PMID: 39117060
Metabolism · 2024
1.00
2
The PM20D1-NADA pathway protects against Parkinson's disease.
PMID: 39174646
Cell Death Differ · 2024
0.90
3
Natural human genetic variation determines basal and inducible expression of
PMID: 31659023
Proc Natl Acad Sci U S A · 2019
0.80
4
Bidirectional shifts in Pm20d1 expression impact thermogenesis and metabolism.
PMID: 40877813
Mol Med · 2025
0.70
5
A Plasma Protein Network Regulates PM20D1 and N-Acyl Amino Acid Bioactivity.
PMID: 32402239
Cell Chem Biol · 2020
0.60