National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory
Protein Information |
|
|---|---|
| Protein Name | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase |
| Accession Code | P70245 |
| Gene | Ebp |
| Organism | Mus musculus | House mouse (Taxonomy: 10090) |
| Part of Reference Proteome? | Yes |
| Sequence (Length: 230) |
Description |
Position in the Nuclear Envelope |
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|---|---|---|
| Location | Location ID | Description |
| Nuclear Envelope | SL-0178 | The nuclear envelope is a membrane system which surrounds the nucleoplasm of eukaryotic cells. It is composed of the nuclear lamina, nuclear pore complexes and two nuclear membranes. The space between the two membranes is called the nuclear intermembrane space. | Membrane Topology |
| Topology | Source | Annotation Type |
| Transmembrane | UniProt | Sequence Analysis {ECO:0000255} | Assigned Ontology terms |
Description |
|
|---|---|
| Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. {Experimental EvidencePubMed:8798407}. | Assigned Ontology terms |
Description |
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|---|---|
| Note=Defects in Ebp are a cause of 'Tattered' (Td) which is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females. | Database Associations |
| OMIM | |
| DisGeNET | |
National and Kapodistrian University of Athens
Department of Biology
Biophysics & Bioinformatics Laboratory