Entity Details
| Primary name |
PITM3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9BZ71 |
| EntryName | PITM3_HUMAN |
| FullName | Membrane-associated phosphatidylinositol transfer protein 3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 974 |
| SequenceStatus | complete |
| DateCreated | 2006-04-18 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Endomembrane system |
Domains
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| Domain | Name | Category | Type |
| IPR004177 | DDHD domain | Domain | Domain |
| IPR031315 | LNS2/PITP | Domain | Domain |
| IPR036412 | HAD-like superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 600977 | OMIM | Cone-rod dystrophy 5 (CORD5) | An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions