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congenital stationary night blindness 1D
Summary
- Synonym
-
- CSNB1D
- congenital stationary night blindness 1D autosomal recessive
- Definition
- A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22.
- Super Class
- autosomal recessive disease congenital stationary night blindness
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60721 | Sodium/potassium/calcium exchanger 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q91WD8 | Sodium/potassium/calcium exchanger 1 |
