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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LMF1
lipase maturation factor 1
Chromosome 16 Β· 16p13.3
NCBI Gene: 64788Ensembl: ENSG00000103227.19HGNC: HGNC:14154UniProt: H3BVI4
29PubMed Papers
21Diseases
0Drugs
29Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
triglyceride metabolic processprotein maturationendoplasmic reticulum membraneHyperlipoproteinemia type 1Abnormality of the cardiovascular systemMyocardial Ischemiaglioma
✦AI Summary

LMF1 (lipase maturation factor 1) is an endoplasmic reticulum chaperone protein essential for the posttranslational maturation of lipoprotein lipase (LPL) and hepatic lipase 1. Each LMF1 molecule facilitates the maturation of approximately 50 or more LPL molecules through processes involving glycosylation, folding, and subunit assembly 1. LMF1 variation directly modulates LPL activity in vivo; transgenic overexpression increases LPL activity in adipose and muscle tissues 1. Loss-of-function mutations in LMF1 cause familial chylomicronemia syndrome (FCS), characterized by severely elevated plasma triglycerides (>10 mmol/L) and acute pancreatitis risk 2. LMF1 mutations account for approximately 1% of FCS cases 3, though compound heterozygous and homozygous variants have been documented 34. Heterozygous LMF1 variants contribute to multifactorial chylomicronemia, a more common form of genetic hypertriglyceridemia 5. Specific variants (p.Trp464Ter, p.Gly172Arg, p.Arg354Trp) reduce or abolish LPL activity in functional studies 4. Clinical detection of LMF1-related hypertriglyceridemia involves genetic testing and assessment of postheparin LPL activity, with management including very-low-fat diets and emerging biotechnological therapies 6.

Sources cited
1
LMF1 is a lipase chaperone critical for LPL posttranslational maturation involving glycosylation, folding, and subunit assembly; variation in LMF1 expression modulates LPL activity
PMID: 22345169
2
FCS is caused by mutations in LMF1 and other genes encoding lipoprotein lipase cofactors; patients exhibit markedly elevated triglycerides and acute pancreatitis risk
PMID: 41866072
3
LMF1 mutations account for approximately 1% of FCS cases; compound heterozygous variants documented in severe hypertriglyceridemia
PMID: 38462482
4
Novel LMF1 variants identified in severe hypertriglyceridemia; specific variants (p.Trp464Ter, p.Gly172Arg, p.Arg354Trp) reduce or abolish LPL activity; partial defects associated with intermittent phenotype
PMID: 30037590
5
Heterozygous LMF1 variants with variable penetrance contribute to multifactorial chylomicronemia, more common than FCS
PMID: 32793115
6
LMF1 mutations affect maturation and transport of lipoprotein lipase; familial chylomicronemia presents with severe hypertriglyceridemia, acute pancreatitis, eruptive xanthomas
PMID: 32841138
Disease Associationsβ“˜21
Hyperlipoproteinemia type 1Open Targets
0.72Strong
Abnormality of the cardiovascular systemOpen Targets
0.52Moderate
Myocardial IschemiaOpen Targets
0.11Weak
gliomaOpen Targets
0.08Suggestive
central nervous system cancerOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.06Suggestive
glycogen storage disease VIOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.05Suggestive
complicationOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
Platelet-activating factor acetylhydrolase deficiencyOpen Targets
0.05Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.05Suggestive
hypoalphalipoproteinemia, primary, 1Open Targets
0.04Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.04Suggestive
gastrointestinal diseaseOpen Targets
0.04Suggestive
transient infantile hypertriglyceridemia and hepatosteatosisOpen Targets
0.04Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.04Suggestive
TMEM199-CDGOpen Targets
0.04Suggestive
familial hypercholesterolemiaOpen Targets
0.04Suggestive
Combined lipase deficiencyUniProt
Pathogenic Variants29
NM_022773.4(LMF1):c.697C>T (p.Arg233Ter)Pathogenic
not provided|Cardiovascular phenotype|Lipase deficiency, combined
β˜…β˜…β˜†β˜†2026β†’ Residue 233
NM_022773.4(LMF1):c.862del (p.Cys288fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 288
NM_022773.4(LMF1):c.938G>A (p.Trp313Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 313
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter)Pathogenic
Lipase deficiency, combined|not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_022773.4(LMF1):c.359C>G (p.Ser120Ter)Pathogenic
not provided|Lipase deficiency, combined
β˜…β˜…β˜†β˜†2025β†’ Residue 120
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)Pathogenic
Lipase deficiency, combined|not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 464
NM_022773.4(LMF1):c.1323del (p.Phe441fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 441
NM_022773.4(LMF1):c.410C>T (p.Ser137Leu)Likely pathogenic
not provided|Lipase deficiency, combined
β˜…β˜…β˜†β˜†2024β†’ Residue 137
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)Pathogenic
not provided|Lipase deficiency, combined
β˜…β˜…β˜†β˜†2022β†’ Residue 422
NM_022773.4(LMF1):c.789_796dup (p.Glu266fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 266
NM_022773.4(LMF1):c.514G>A (p.Gly172Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 172
NM_022773.4(LMF1):c.572G>A (p.Trp191Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 191
NM_022773.4(LMF1):c.1261dup (p.Leu421fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 421
NM_022773.4(LMF1):c.1317C>G (p.Tyr439Ter)Pathogenic
Lipase deficiency, combined|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 439
NM_022773.4(LMF1):c.1530-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_022773.4(LMF1):c.264_265del (p.Arg88fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 88
NM_022773.4(LMF1):c.193+2_193+3delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_022773.4(LMF1):c.149G>A (p.Trp50Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 50
NM_022773.4(LMF1):c.946_947del (p.Met316fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 316
NM_022773.4(LMF1):c.244_245del (p.Arg82fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 82
View on ClinVar β†—
Related Genes
LIPCProtein interaction98%LPLProtein interaction94%APOC2Protein interaction93%APOA5Protein interaction88%GPIHBP1Protein interaction72%ZNG1FShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Liver
87%
Lung
52%
Bone Marrow
49%
Brain
49%
Heart
29%
Gene Interaction Network
Click a node to explore
LMF1LIPCLPLAPOC2APOA5GPIHBP1ZNG1F
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96S06
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.44LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.17 [0.96–1.44]
RankingsWhere LMF1 stands among ~20K protein-coding genes
  • #12,178of 20,598
    Most Researched29
  • #1,856of 5,498
    Most Pathogenic Variants29
  • #14,758of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedLMF1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
PMID: 38397180
Genes (Basel) Β· 2024
1.00
2
Genetics of Hypertriglyceridemia.
PMID: 32793115
Front Endocrinol (Lausanne) Β· 2020
0.90
3
Genetic basis of hypertriglyceridemia.
PMID: 39672669
Clin Investig Arterioscler Β· 2024
0.80
4
[Familial chylomicronemia].
PMID: 32841138
Medicina (B Aires) Β· 2020
0.70
5
Genetic dyslipidemias.
PMID: 41866072
Ann Endocrinol (Paris) Β· 2026
0.60