PECR (Peroxisomal Trans-2-Enoyl-CoA Reductase)
A key enzyme in peroxisomal fatty acid beta-oxidation and bile acid synthesis
Gene Information Card
| Symbol | PECR |
|---|---|
| Full Name | Peroxisomal Trans-2-Enoyl-CoA Reductase |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 55825 ncbi.nlm.nih.gov/gene/55825 |
| Ensembl ID | ENSG00000115425 |
| UniProt ID | Q9BY49 |
| OMIM ID | 605843 |
| HGNC ID | 16281 |
| Aliases | HSA250839, MGC14291, TERP |
Description
PECR encodes peroxisomal trans-2-enoyl-CoA reductase, an enzyme involved in the peroxisomal beta-oxidation of fatty acids and bile acid intermediates. It catalyzes the NADPH-dependent reduction of trans-2-enoyl-CoA to acyl-CoA, a key step in chain shortening of very long-chain fatty acids and in the synthesis of bile acids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal disorder (potential) | Deficiency in PECR may impair peroxisomal beta-oxidation, leading to accumulation of very long-chain fatty acids and bile acid intermediates. | Limited; case reports and functional studies suggest association. |
| Bile acid synthesis defect | Reduced PECR activity disrupts the conversion of di- and trihydroxycholestanoic acids to bile acids. | Inferred from biochemical pathway; direct evidence in patients is scarce. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Heart | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK293 | 5.8 | Embryonic kidney cells |
| HeLa | 3.4 | Cervical cancer cells |
| K562 | 1.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish or severely reduce enzymatic activity (e.g., start codon loss) are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity | • NADP binding |
| • peroxisome | • fatty acid beta-oxidation |
| • bile acid biosynthetic process |
Pathways
• Peroxisomal beta-oxidation
• Bile acid synthesis
Protein Summary
Peroxisomal trans-2-enoyl-CoA reductase is a 36 kDa protein localized to the peroxisomal matrix. It contains a Rossmann-fold NADPH-binding domain and belongs to the short-chain dehydrogenases/reductases (SDR) family. The enzyme reduces trans-2-enoyl-CoA to acyl-CoA, using NADPH as cofactor, and is essential for the chain shortening of very long-chain fatty acids and the final steps of bile acid synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PECR Knockout HEK293 Cell Line | EDJ-KQ14725 | Human | 55825 | Details Get a Quote |
| PECR Knockout A-549 Cell Line | EDJ-KQ43838 | Human | 55825 | Details Get a Quote |
| PECR Knockout HCT 116 Cell Line | EDJ-KQ45060 | Human | 55825 | Details Get a Quote |
| PECR Knockout HeLa Cell Line | EDJ-KQ45061 | Human | 55825 | Details Get a Quote |
