LCAT Gene: Lecithin-Cholesterol Acyltransferase
A comprehensive guide to the LCAT gene, its function, associated diseases, expression, and mutations.
Gene Information Card
| Symbol | LCAT |
|---|---|
| Full Name | Lecithin-Cholesterol Acyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 3931 ncbi.nlm.nih.gov/gene/3931 |
| Ensembl ID | ENSG00000169194 |
| UniProt ID | P04180 |
| OMIM ID | 606967 |
| HGNC ID | 6522 |
| Aliases | LCATD, FLJ26937 |
Description
The LCAT gene encodes lecithin-cholesterol acyltransferase, a key enzyme in lipoprotein metabolism. It catalyzes the esterification of cholesterol on high-density lipoproteins (HDL), converting free cholesterol to cholesteryl esters, which is essential for HDL maturation and reverse cholesterol transport. Mutations in LCAT cause familial LCAT deficiency and Fish-eye disease, characterized by low HDL cholesterol, corneal opacities, and renal impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fish-eye disease | Partial LCAT deficiency due to missense mutations (e.g., T123I) that impair activity on HDL but not on LDL, leading to corneal opacities and low HDL-C. | OMIM #136120; ClinVar |
| Familial LCAT deficiency | Complete loss of LCAT function from biallelic mutations (e.g., R147W, frameshift), causing severe HDL deficiency, anemia, proteinuria, and renal failure. | OMIM #245900; ClinVar |
| Atherosclerosis susceptibility | Low LCAT activity or HDL dysfunction may contribute to increased cardiovascular risk, though direct evidence is debated. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal gland | 3.2 | Medium |
| Small intestine | 2.1 | Medium |
| Kidney | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.3 | Hepatocyte model |
| Huh-7 (liver) | 11.8 | Hepatocyte model |
| THP-1 (macrophage) | 0.2 | Low expression |
| HeLa (cervical) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.368C>T (p.T123I) | Missense | Common in Fish-eye disease | Partial loss of function; reduced HDL esterification |
| c.439C>T (p.R147W) | Missense | Rare | Complete loss of function; familial LCAT deficiency |
| c.1A>G (p.M1V) | Missense | Rare | Loss of start codon; no protein production |
| c.1013_1014delCT | Frameshift | Rare | Premature truncation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most LCAT mutations (e.g., R147W, frameshift) cause partial or complete loss of enzymatic activity, leading to LCAT deficiency phenotypes.
Gain of Function (GOF)
No gain-of-function mutations are reported in LCAT.
Dominant Negative (DN)
No dominant-negative mutations are described; LCAT deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607) | • triglyceride metabolic process (GO:0006641) |
| • cholesterol metabolic process (GO:0008203) | • high-density lipoprotein particle assembly (GO:0034364) |
| • cholesterol transporter activity (GO:0017127) |
Pathways
• HDL metabolism (Reactome: R-HSA-8963896)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Reverse cholesterol transport (KEGG: hsa04979)
Protein Summary
Lecithin-cholesterol acyltransferase (LCAT) is a 440-amino-acid glycoprotein secreted primarily by the liver. It catalyzes the transfer of an acyl group from lecithin to free cholesterol, forming cholesteryl esters on HDL particles. This reaction is critical for HDL maturation and reverse cholesterol transport. The protein contains a catalytic triad (Ser181, Asp345, His377) and is activated by apolipoprotein A-I. Deficiency leads to accumulation of nascent HDL and free cholesterol, causing corneal opacities, anemia, and renal disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LCAT Knockout HEK293 Cell Line | EDJ-KQ50416 | Human | 3931 | Details Get a Quote |
| LCAT Knockout HeLa Cell Line | EDJ-KQ53778 | Human | 3931 | Details Get a Quote |
| LCAT Knockout A-549 Cell Line | EDJ-KQ62257 | Human | 3931 | Details Get a Quote |
| LCAT Knockout HCT 116 Cell Line | EDJ-KQ70742 | Human | 3931 | Details Get a Quote |
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