Entity Details
| Primary name |
DR9C7_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NEX9 |
| EntryName | DR9C7_HUMAN |
| FullName | Short-chain dehydrogenase/reductase family 9C member 7 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 313 |
| SequenceStatus | complete |
| DateCreated | 2008-02-05 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR002347 | Short-chain dehydrogenase/reductase SDR | Family | Family |
| IPR020904 | Short-chain dehydrogenase/reductase, conserved site | Site | Conserved site |
| IPR032968 | Short-chain dehydrogenase/reductase family 9C member 7 | Family | Family |
| IPR036291 | NAD(P)-binding domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 617574 | OMIM | Ichthyosis, congenital, autosomal recessive 13 (ARCI13) | A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |