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Browse result for Mal de Meleda
※ introduction A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24.
Reference
DiseaseOntology: Mal de Meleda
Reference
DiseaseOntology: Mal de Meleda
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05601 | P55000 | 57152 | SLURP1 | Secreted Ly-6/uPAR-related protein 1 -81/S) | Homo sapiens |
