atlastin GTPase 3
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum to Golgi vesicle-mediated transport | ||
| endoplasmic reticulum organization | ||
| endoplasmic reticulum organization | ||
| Golgi organization | ||
| protein homooligomerization |
| GO Term | Evidence Code | PMID |
|---|---|---|
| GTPase activity | ||
| GTPase activity | ||
| protein binding | ||
| GTP binding | ||
| identical protein binding |
| Gene Ontology |
|---|
| GTP binding |
| endoplasmic reticulum organization |
| protein homooligomerization |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070154 | hereditary sensory neuropathy type 1F |
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000962 | Hyperkeratosis |
| HP:0001026 | Penetrating foot ulcers |
| HP:0001058 | Poor wound healing |
| HP:0001324 | Muscle weakness |
| HP:0001822 | Hallux valgus |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002141 | Gait imbalance |
| HP:0002270 | Abnormality of the autonomic nervous system |
| Disease ID | Disease Name |
|---|---|
| ORPHA:36386 |
|
| OMIM:615632 |
|
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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