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Table 1 Multiple diseases related to ubiquitination.

From: The role of epigenetics in personalized medicine: challenges and opportunities

Sr. No. Gene Encodes for Disorder Citation
1 Parkin E3 ubiquitin ligase Parkinson’s disease (autosomal recess) [21]
2 uchl1 Ubiquitin C-terminal hydrolase (UCH-L1) Parkinson’s disease (autosomal recess) [21]
3 E6-AP Ubiquitin ligase E6-AP (UBE3A) Angelman syndrome [22]
4 Single point mutation in HUWE/Mule/ ARF-BP Ubiquitin ligase HUWE/Mule/ ARF-BP Mental retardation, X-linked, syndromic Turner type (MRXST) [23, 24]
5 Ataxin-3 Deubiquitinating enzyme, ataxin-3 Familial amyotrophic lateral sclerosis, Machado-Joseph disease/ spinocerebellar ataxia type-3 [25]
6 Hippel Lindau vhl E3-ubiquitin ligase Pheochromocytoma (PCC) [26]
7 cyld Deubiquitinase CYLD Turban tumor syndrome (cylindromatosis) [27]
8 Aberrant expression/ mutations E3 ubiquitin ligase/ deubiquitinating enzymes (DUBs) Diverse types of cancer [2830]