Entity Details
| Primary name |
WDR72_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q3MJ13 |
| EntryName | WDR72_HUMAN |
| FullName | WD repeat-containing protein 72 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 1102 |
| SequenceStatus | complete |
| DateCreated | 2006-06-27 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasmic vesicle |
Domains
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| Domain | Name | Category | Type |
| IPR001680 | WD40 repeat | Repeat | Repeat |
| IPR015943 | WD40/YVTN repeat-like-containing domain superfamily | Family | Homologous superfamily |
| IPR019775 | WD40 repeat, conserved site | Site | Conserved site |
| IPR036322 | WD40-repeat-containing domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 613211 | OMIM | Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3) | A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |