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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
Reference
Wiki: Pontocerebellar hypoplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD08892 | Q7Z6J9 | 28398 | TSEN54 | tRNA-splicing endonuclease subunit Sen54 | Homo sapiens |
| PTMD11008 | Q96B26 | 11340 | EXOSC8 | Exosome complex component RRP43 | Homo sapiens |
| PTMD11274 | Q96GM8 | 11403 | TOE1 | Target of EGR1 protein 1 | Homo sapiens |
| PTMD11934 | Q99986 | 7443 | VRK1 | Serine/threonine-protein kinase VRK1 | Homo sapiens |
| PTMD13180 | Q9HD40 | 51091 | SEPSECS | O-phosphoseryl-tRNA selenium transferase synthase) -associated antigenic protein) | Homo sapiens |
| PTMD13306 | Q9NQT5 | 51010 | EXOSC3 | Exosome complex component RRP40 | Homo sapiens |
| PTMD13518 | Q9NUY8 | 55773 | TBC1D23 | TBC1 domain family member 23 | Homo sapiens |
| PTMD13547 | Q9NVI7 | 55210 | ATAD3A | ATPase family AAA domain-containing protein 3A | Homo sapiens |
| PTMD14510 | Q9UNW1 | 9562 | MINPP1 | Multiple inositol polyphosphate phosphatase 1 | Homo sapiens |
| PTMD14769 | Q9Y3B2 | 51013 | EXOSC1 | Exosome complex component CSL4 | Homo sapiens |
| PTMD14779 | Q9Y3C6 | 51645 | PPIL1 | Peptidyl-prolyl cis-trans isomerase-like 1 | Homo sapiens |
