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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05601P5500057152
SLURP1
Secreted Ly-6/uPAR-related protein 1 -81/S)
Homo sapiens