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Browse result for childhood-onset neurodegeneration with brain atrophy

※ introduction

    A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.

Reference
DiseaseOntology: childhood-onset neurodegeneration with brain atrophy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00544P174807343
UBTF
Nucleolar transcription factor 1
Homo sapiens
PTMD03379O952023954
LETM1
Mitochondrial proton/calcium exchanger protein /Hexchanger)
Homo sapiens
PTMD04585P239191841
DTYMK
Thymidylate kinase
Homo sapiens
PTMD13641Q9NX4654936
ADPRS
ADP-ribosylhydrolase ARH3 glycohydrolase ARH3)
Homo sapiens