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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LMF2
lipase maturation factor 2
Chromosome 22 · 22q13.33
NCBI Gene: 91289Ensembl: ENSG00000100258.19HGNC: HGNC:25096UniProt: Q9BU23
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembraneprotein maturationendoplasmic reticulum membraneneurodegenerative diseaserenal carcinomaPhlebitisThrombophlebitis
✦AI Summary

LMF2 (lipase maturation factor 2) is an endoplasmic reticulum-resident protein involved in protein maturation and transport. While its primary characterized function relates to lipid metabolism—rare loss-of-function variants in LMF2 are associated with increased hepatic fat accumulation 1—LMF2 has emerged as a potential biomarker for neurodegenerative disease. DNA methylation levels in the NCAPH2/LMF2 promoter region are significantly decreased in Alzheimer's disease (AD) and amnesic mild cognitive impairment (aMCI) patients compared to controls 2, with methylation status showing associations with hippocampal atrophy in these populations 3. This epigenetic modification may influence disease progression through apoptotic mechanisms 3. The clinical significance of LMF2 methylation as a biomarker for early AD and aMCI diagnosis has been proposed 2, though clinical validation remains limited 4. Additionally, LMF2 copy number variations show associations with metabolic adaptation in sheep 5. However, mechanistic understanding of how LMF2 epigenetic or genetic alterations contribute to neurodegeneration remains incomplete, and further investigation is needed to establish clinical utility.

Sources cited
1
Rare predicted loss-of-function variants in LMF2 are associated with increased hepatic fat accumulation and replicate in UK Biobank
PMID: 36513072
2
DNA methylation in the NCAPH2/LMF2 promoter region is significantly decreased in AD and aMCI patients compared to controls and is proposed as a biomarker
PMID: 26742120
3
NCAPH2/LMF2 methylation is associated with hippocampal atrophy in AD and aMCI, potentially through apoptosis mechanisms
PMID: 27356276
4
LMF2 methylation is identified as a potential epigenetic biomarker for AD progression, though clinical validation remains limited
PMID: 33357195
5
LMF2 copy number variations are associated with fast metabolism and climatic adaptation in sheep populations
PMID: 37372436
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
renal carcinomaOpen Targets
0.04Suggestive
PhlebitisOpen Targets
0.04Suggestive
ThrombophlebitisOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.03Suggestive
hearing lossOpen Targets
0.02Suggestive
chondrocalcinosisOpen Targets
0.02Suggestive
hippocampal atrophyOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cholangitisOpen Targets
0.00Suggestive
Cholecystitis, AcuteOpen Targets
0.00Suggestive
cholelithiasisOpen Targets
0.00Suggestive
primary biliary cirrhosisOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
language impairmentOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
obesityOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NAA10Shared pathway100%YAE1Shared pathway100%NAA16Shared pathway100%NAA15Shared pathway100%ZNG1FShared pathway100%ZNG1CShared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
93%
Bone Marrow
93%
Lung
91%
Brain
30%
Heart
30%
Gene Interaction Network
Click a node to explore
LMF2NAA10YAE1NAA16NAA15ZNG1FZNG1C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BU23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.43 [1.22–1.67]
RankingsWhere LMF2 stands among ~20K protein-coding genes
  • #9,612of 20,598
    Most Researched44
  • #15,996of 17,882
    Most Constrained (LOEUF)1.67
Genes detectedLMF2
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Recent Evidence in Epigenomics and Proteomics Biomarkers for Early and Minimally Invasive Diagnosis of Alzheimer's and Parkinson's Diseases.
PMID: 33357195
Curr Neuropharmacol · 2021
1.00
2
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.
PMID: 36513072
Cell Rep Med · 2022
0.80
3
DNA methylation in the NCAPH2/LMF2 promoter region is associated with hippocampal atrophy in Alzheimer's disease and amnesic mild cognitive impairment patients.
PMID: 27356276
Neurosci Lett · 2016
0.60
4
Genomic Landscape of Copy Number Variations and Their Associations with Climatic Variables in the World's Sheep.
PMID: 37372436
Genes (Basel) · 2023
0.40
5
Development of Biomarkers Based on DNA Methylation in the NCAPH2/LMF2 Promoter Region for Diagnosis of Alzheimer's Disease and Amnesic Mild Cognitive Impairment.
PMID: 26742120
PLoS One · 2016
0.20