Entity Details
| Primary name |
MOT12_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q6ZSM3 |
| EntryName | MOT12_HUMAN |
| FullName | Monocarboxylate transporter 12 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 516 |
| SequenceStatus | complete |
| DateCreated | 2007-05-15 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell membrane |
Domains
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| Domain | Name | Category | Type |
| IPR011701 | Major facilitator superfamily | Family | Family |
| IPR020846 | Major facilitator superfamily domain | Domain | Domain |
| IPR036259 | MFS transporter superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 612018 | OMIM | Cataract 47 (CTRCT47) | A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions