LCLAT1 Gene
Lysocardiolipin Acyltransferase 1
Gene Information Card
| Symbol | LCLAT1 |
|---|---|
| Full Name | Lysocardiolipin Acyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.1 |
| NCBI Gene ID | 253558 ncbi.nlm.nih.gov/gene/253558 |
| Ensembl ID | ENSG00000162949 |
| UniProt ID | Q6UWP7 |
| OMIM ID | 614241 |
| HGNC ID | 28623 |
| Aliases | AGPAT8, ALCAT1, LYCAT, 1-AGP acyltransferase 8, 1-acylglycerol-3-phosphate O-acyltransferase 8 |
Description
LCLAT1 encodes lysocardiolipin acyltransferase 1, an enzyme localized to the mitochondria that catalyzes the remodeling of cardiolipin, a key phospholipid in the inner mitochondrial membrane. It specifically acylates monolysocardiolipin to mature cardiolipin, essential for mitochondrial function and energy metabolism. Mutations in LCLAT1 are associated with mitochondrial disorders and altered lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Barth syndrome (phenocopy) | Impaired cardiolipin remodeling due to LCLAT1 deficiency leads to abnormal mitochondrial morphology and respiratory chain dysfunction. | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Reduced LCLAT1 activity disrupts cardiolipin composition, impairing electron transport chain assembly. | NCBI Gene, PubMed |
| Cardiomyopathy | Altered cardiolipin acylation affects mitochondrial bioenergetics in cardiac tissue. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 9.8 | Medium |
| Liver | 6.5 | Low |
| Kidney | 7.2 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Moderate expression |
| HEK293 | 7.9 | Moderate expression |
| HepG2 | 6.1 | Low expression |
| K562 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.589C>T (p.Arg197Trp) | Missense | <0.01% | Reduced acyltransferase activity; associated with mitochondrial dysfunction |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Impaired cardiolipin remodeling; reported in cardiomyopathy |
| c.1243delC (p.Leu415Trpfs*12) | Frameshift | <0.01% | Loss of function; likely pathogenic for Barth syndrome phenocopy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein with no enzymatic activity, causing cardiolipin deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiolipin biosynthesis (Reactome: R-HSA-1483206)
• Glycerophospholipid metabolism (KEGG: hsa00564)
Protein Summary
LCLAT1 is a 414-amino acid transmembrane protein localized to the mitochondrial inner membrane. It belongs to the 1-acylglycerol-3-phosphate O-acyltransferase family and catalyzes the conversion of monolysocardiolipin to cardiolipin using acyl-CoA as a donor. This remodeling step is critical for maintaining the unique fatty acid composition of cardiolipin, which supports mitochondrial cristae structure and supercomplex assembly. Defects in LCLAT1 lead to abnormal cardiolipin profiles and mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LCLAT1 Knockout HEK293 Cell Line | EDJ-KQ11734 | Human | 253558 | Details Get a Quote |
| LCLAT1 Knockout A-549 Cell Line | EDJ-KQ40103 | Human | 253558 | Details Get a Quote |
| LCLAT1 Knockout HeLa Cell Line | EDJ-KQ40105 | Human | 253558 | Details Get a Quote |
| LCLAT1 Knockout HCT 116 Cell Line | EDJ-KQ38836 | Human | 253558 | Details Get a Quote |
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