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Repository for lectin-assisted multimodality data
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MIRAGE
autosomal recessive Alport syndrome
Summary
- Definition
- An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
- Super Class
- Alport syndrome autosomal recessive disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P53420 | Collagen alpha-4(IV) chain | |
| Q01955 | Collagen alpha-3(IV) chain |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9QZR9 | Collagen alpha-4(IV) chain | |
| Q9QZS0 | Collagen alpha-3(IV) chain |
