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Browse result for Sjogren-larsson syndrome

※ introduction

    A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.

Reference
DiseaseOntology: Sjogren-larsson syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05441P51648224
ALDH3A2
Aldehyde dehydrogenase family 3 member A2
Homo sapiens