LMF1 Gene - Lipase Maturation Factor 1
Key regulator of lipoprotein lipase and hepatic lipase activity
Gene Information Card
| Symbol | LMF1 |
|---|---|
| Full Name | Lipase Maturation Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 64787 ncbi.nlm.nih.gov/gene/64787 |
| Ensembl ID | ENSG00000103227 |
| UniProt ID | Q96CQ1 |
| OMIM ID | 611761 |
| HGNC ID | 29154 |
| Aliases | C16orf2, FLJ32670, MGC138290, Tmem112 |
Description
LMF1 encodes a transmembrane protein localized to the endoplasmic reticulum that is essential for the maturation and secretion of lipoprotein lipase (LPL) and hepatic lipase (LIPC). It acts as a chaperone facilitating the proper folding and transport of these lipases. Loss-of-function mutations in LMF1 cause severe hypertriglyceridemia and chylomicronemia due to impaired lipase activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperlipoproteinemia type I (chylomicronemia) | Loss-of-function mutations in LMF1 impair LPL maturation, reducing triglyceride clearance | ClinVar, OMIM |
| Hypertriglyceridemia | Heterozygous LMF1 variants contribute to elevated triglycerides | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Medium |
| Adipose tissue | 4.8 | Medium |
| Heart | 3.1 | Low |
| Skeletal muscle | 2.5 | Low |
| Pancreas | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 6.1 | Hepatocyte cell line |
| 3T3-L1 (adipocyte) | 5.5 | Differentiated adipocytes |
| HeLa | 2.3 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.556C>T (p.Arg186*) | Nonsense | Rare | Loss of function; associated with chylomicronemia |
| c.778G>A (p.Gly260Arg) | Missense | Rare | Impaired LPL maturation |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Reduced lipase activity |
Mutation functional classification
Loss of Function (LOF)
Most LMF1 mutations are loss-of-function, leading to reduced LPL and HL activity and hypertriglyceridemia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • integral component of membrane (GO:0016021) |
| • cofactor transmembrane transport (GO:0051186) | • regulation of proteasomal protein catabolic process (GO:0061136) |
| • positive regulation of triglyceride catabolic process (GO:0010898) |
Pathways
• Lipoprotein lipase and hepatic lipase maturation (Reactome: R-HSA-8963898)
• Triglyceride metabolism (Reactome: R-HSA-8979227)
Protein Summary
LMF1 is a 567-amino acid transmembrane protein with five predicted transmembrane domains. It resides in the endoplasmic reticulum and acts as a dedicated chaperone for the maturation of lipoprotein lipase and hepatic lipase. Without functional LMF1, these lipases are retained in the ER and degraded, leading to severe hypertriglyceridemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMF1 Knockout HEK293 Cell Line | EDJ-KQ14090 | Human | 64788 | Details Get a Quote |
| LMF1 Knockout A-549 Cell Line | EDJ-KQ44008 | Human | 64788 | Details Get a Quote |
| LMF1 Knockout HCT 116 Cell Line | EDJ-KQ44009 | Human | 64788 | Details Get a Quote |
| LMF1 Knockout HeLa Cell Line | EDJ-KQ57081 | Human | 64788 | Details Get a Quote |
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