3-hydroxyacyl-CoA dehydratase 1
| UniProt | Protein Name |
|---|---|
| B0YJ81 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of cell-substrate adhesion | ||
| sphingolipid biosynthetic process | ||
| sphingolipid biosynthetic process | ||
| fatty acid elongation | ||
| fatty acid elongation |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| 3-hydroxyacyl-CoA dehydratase activity | ||
| 3-hydroxyacyl-CoA dehydratase activity | ||
| enzyme binding | ||
| hydroxyapatite binding |
| InterPro |
|---|
| Protein-tyrosine phosphatase-like, PTPLA |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081337 | congenital myopathy |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000276 | Long face |
| HP:0000347 | Micrognathia |
| HP:0000602 | Ophthalmoplegia |
| HP:0000678 | Dental crowding |
| HP:0000767 | Pectus excavatum |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| Disease ID | Disease Name |
|---|---|
| OMIM:619967 |
|
| ORPHA:2020 |
|
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025