thrombospondin type 1 domain containing 4
| UniProt | Protein Name |
|---|---|
| Q6ZMP0 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix organization |
|
|
| elastic fiber assembly | ||
| microfibril assembly |
| GO Term | Evidence Code | PMID |
|---|---|---|
| microfibril | ||
| collagen-containing extracellular matrix | ||
| extracellular exosome |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix structural constituent | ||
| hydrolase activity |
| Gene Ontology |
|---|
| extracellular matrix organization |
| metalloendopeptidase activity |
| proteolysis |
| InterPro |
|---|
| ADAMTS/ADAMTS-like, Spacer 1 |
| PLAC |
| Thrombospondin type-1 (TSP1) repeat superfamily |
| Thrombospondin type-1 (TSP1) repeat |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:14004 | thoracic aortic aneurysm |
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000098 | Tall stature |
| HP:0000218 | High palate |
| HP:0000278 | Retrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000525 | Abnormality iris morphology |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000767 | Pectus excavatum |
| HP:0000822 | Hypertension |
| Disease ID | Disease Name |
|---|---|
| OMIM:619825 |
|
| ORPHA:91387 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025