Entity Details
| Primary name |
SAMC_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q70HW3 |
| EntryName | SAMC_HUMAN |
| FullName | S-adenosylmethionine mitochondrial carrier protein |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 274 |
| SequenceStatus | complete |
| DateCreated | 2008-02-05 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion inner membrane |
Domains
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| Domain | Name | Category | Type |
| IPR018108 | Mitochondrial substrate/solute carrier | Repeat | Repeat |
| IPR023395 | Mitochondrial carrier domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 616794 | OMIM | Combined oxidative phosphorylation deficiency 28 (COXPD28) | An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions