Entity Details
| Primary name |
ATOH7_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8N100 |
| EntryName | ATOH7_HUMAN |
| FullName | Protein atonal homolog 7 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 152 |
| SequenceStatus | complete |
| DateCreated | 2007-06-26 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR011598 | Myc-type, basic helix-loop-helix (bHLH) domain | Domain | Domain |
| IPR032663 | Protein atonal homologue 7 | Family | Family |
| IPR036638 | Helix-loop-helix DNA-binding domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 221900 | OMIM | Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) | A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. The disease is caused by variants affecting the gene represented in this entry. A 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 has been found in PHPVAR patients (PubMed:21441919). |
Interactions
1 interaction