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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
Reference
DiseaseOntology: Sjogren-larsson syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05441 | P51648 | 224 | ALDH3A2 | Aldehyde dehydrogenase family 3 member A2 | Homo sapiens |
