CPT1B Gene - Carnitine Palmitoyltransferase 1B
Key regulator of mitochondrial fatty acid oxidation in muscle and heart
Gene Information Card
| Symbol | CPT1B |
|---|---|
| Full Name | Carnitine Palmitoyltransferase 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 1375 ncbi.nlm.nih.gov/gene/1375 |
| Ensembl ID | ENSG00000100228 |
| UniProt ID | Q92523 |
| OMIM ID | 601987 |
| HGNC ID | 2329 |
| Aliases | CPT1-M, CPT1M, M-CPT1 |
Description
The CPT1B gene encodes carnitine palmitoyltransferase 1B, a mitochondrial enzyme that catalyzes the rate-limiting step in long-chain fatty acid oxidation. It is primarily expressed in muscle, heart, and adipose tissue, converting long-chain acyl-CoA to acylcarnitine for transport across the mitochondrial inner membrane. CPT1B is essential for energy metabolism during fasting and exercise.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnitine palmitoyltransferase I deficiency (muscle form) | Loss-of-function mutations impair fatty acid oxidation, leading to hypoketotic hypoglycemia and muscle weakness | ClinVar, OMIM |
| Type 2 diabetes | Reduced CPT1B expression in muscle is associated with insulin resistance and impaired lipid metabolism | NCBI Gene, PubMed |
| Cardiomyopathy | Altered CPT1B activity affects cardiac energy homeostasis, contributing to hypertrophic cardiomyopathy | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 48.2 | High |
| Heart | 35.1 | High |
| Adipose tissue | 12.5 | Medium |
| Liver | 1.8 | Low |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myocytes | 52.0 | Primary cell line |
| Cardiomyocytes | 38.7 | Primary cell line |
| HepG2 | 2.1 | Hepatocellular carcinoma |
| HEK293 | 1.5 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1436C>T (p.Pro479Leu) | Missense | Rare | Reduced enzyme activity; associated with CPT1 deficiency |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; severe metabolic phenotype |
| c.825_826delAG | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CPT1B mutations are loss-of-function, reducing or abolishing enzyme activity, leading to impaired fatty acid oxidation and metabolic crises.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CPT1B.
Dominant Negative (DN)
No dominant-negative mutations have been described for CPT1B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Fatty acid oxidation (Reactome: R-HSA-77289)
• Mitochondrial carnitine shuttle (KEGG: map00071)
Protein Summary
CPT1B is a 772-amino acid transmembrane protein located on the mitochondrial outer membrane. It contains a catalytic domain facing the cytosol and is inhibited by malonyl-CoA. The enzyme is critical for shuttling long-chain fatty acids into mitochondria for beta-oxidation, particularly in tissues with high energy demands like muscle and heart.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPT1B Knockout HEK293 Cell Line | EDJ-KQ1876 | Human | 1375 | Details Get a Quote |
| CPT1B Knockout A-549 Cell Line | EDJ-KQ21758 | Human | 1375 | Details Get a Quote |
| CPT1B Knockout HCT 116 Cell Line | EDJ-KQ21759 | Human | 1375 | Details Get a Quote |
| CPT1B Knockout HeLa Cell Line | EDJ-KQ21760 | Human | 1375 | Details Get a Quote |
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