RNF138, ring finger protein 138, 51444

N. diseases: 15; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 AlteredExpression phenotype BEFREE We propose that RNF138 plays a critical role in the homeostatic regulation of Ca<sub>V</sub>2.1 protein level and functional expression and that RNF138 serves as the primary E3 ubiquitin ligase promoting EA2-associated aberrant degradation of human Ca<sub>V</sub>2.1 subunits.<b>SIGNIFICANCE STATEMENT</b> Loss-of-function mutations in the human Ca<sub>V</sub>2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal attacks of ataxia and nystagmus. 28167673 2017