Entity Details
| Primary name |
GUCA1B |
| Entity type |
gene |
| Source |
Source Link |
Details
| PrimaryID | 2979 |
| RefseqGene | NG_016216 |
| Symbol | GUCA1B |
| Name | guanylate cyclase activator 1B |
| Chromosome | 6 |
| Location | 6p21.1 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 1998-08-17 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 613827 | OMIM | Retinitis pigmentosa 48 (RP48) | A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions