※ PTMD 2.0 database Online Browse Options

Browse result for Pontoneocerebellar hypoplasia

※ introduction

    Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons). Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.

Reference
Wiki: Pontoneocerebellar hypoplasia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD08892Q7Z6J928398
TSEN54
tRNA-splicing endonuclease subunit Sen54
Homo sapiens
PTMD09967Q8NCE080746
TSEN2
tRNA-splicing endonuclease subunit Sen2
Homo sapiens
PTMD12076Q9BSV679042
TSEN34
tRNA-splicing endonuclease subunit Sen34
Homo sapiens