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Browse result for Pontocerebellar 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: Pontocerebellar hypoplasia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD08892Q7Z6J928398
TSEN54
tRNA-splicing endonuclease subunit Sen54
Homo sapiens
PTMD11008Q96B2611340
EXOSC8
Exosome complex component RRP43
Homo sapiens
PTMD11274Q96GM811403
TOE1
Target of EGR1 protein 1
Homo sapiens
PTMD11934Q999867443
VRK1
Serine/threonine-protein kinase VRK1
Homo sapiens
PTMD13180Q9HD4051091
SEPSECS
O-phosphoseryl-tRNA selenium transferase synthase) -associated antigenic protein)
Homo sapiens
PTMD13306Q9NQT551010
EXOSC3
Exosome complex component RRP40
Homo sapiens
PTMD13518Q9NUY855773
TBC1D23
TBC1 domain family member 23
Homo sapiens
PTMD13547Q9NVI755210
ATAD3A
ATPase family AAA domain-containing protein 3A
Homo sapiens
PTMD14510Q9UNW19562
MINPP1
Multiple inositol polyphosphate phosphatase 1
Homo sapiens
PTMD14769Q9Y3B251013
EXOSC1
Exosome complex component CSL4
Homo sapiens
PTMD14779Q9Y3C651645
PPIL1
Peptidyl-prolyl cis-trans isomerase-like 1
Homo sapiens