disease 1,831 words KG: ent-dise-20c615ec
Contents

Spinocerebellar Ataxia Type 10

Disease Info
GeneATXN10 (Ataxin-10)
Chromosome12q24.31
Normal repeat5-55 ATTCT repeats
Pathogenic repeat800-4,500 ATTCT repeats
Intermediate55-850 repeats (reduced penetrance)
Protein size473 amino acids
Subcellular localizationCytoplasmic, nucleus
Tissue expressionBrain (cerebellum), peripheral tissues
Normal functionMitochondrial function, neuronal survival
DatabasesOMIMOrphanetClinicalTrialsPubMed

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