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) | |
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 |