| Gene Information | |
|---|---|
| Gene Name | ECHD |
| Organism | Homo sapiens (Human) |
| Gene Length | 723 |
| Protein Names | Peroxisomal bifunctional enzyme (PBE) (PBFE) (L-bifunctional protein) (LBP) (Multifunctional enzyme 1) (MFE1) [Includes: Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase (EC 4.2.1.17) (EC 5.3.3.8); 3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.35)] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q08426 |
| Gene Card | EHHADH |
| Uniprot ID | Q08426 |
| Pfam | PF00725; PF02737; PF00378 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain. {ECO:0000269|PubMed:24401050, ECO:0000269|PubMed:8188243}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs398124646 rs1062551 rs1062552 rs1062553 rs2302819 rs1062555 rs1042437 rs1042438 rs11919970 rs11927618 |
| Subcellular location [CC] | Peroxisome {ECO:0000305}. |
| Mouse PG classification | NA |
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