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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
Reference
Wiki: Pontoneocerebellar hypoplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD08892 | Q7Z6J9 | 28398 | TSEN54 | tRNA-splicing endonuclease subunit Sen54 | Homo sapiens |
| PTMD09967 | Q8NCE0 | 80746 | TSEN2 | tRNA-splicing endonuclease subunit Sen2 | Homo sapiens |
| PTMD12076 | Q9BSV6 | 79042 | TSEN34 | tRNA-splicing endonuclease subunit Sen34 | Homo sapiens |
