Entity Details
| Primary name |
LOXH1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8IVV2 |
| EntryName | LOXH1_HUMAN |
| FullName | Lipoxygenase homology domain-containing protein 1 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 2067 |
| SequenceStatus | complete |
| DateCreated | 2007-10-23 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
Domains
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| Domain | Name | Category | Type |
| IPR001024 | PLAT/LH2 domain | Domain | Domain |
| IPR036392 | PLAT/LH2 domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 613079 | OMIM | Deafness, autosomal recessive, 77 (DFNB77) | A form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction