DISEASES

Disease-gene associations mined from literature

Literature associating RNF19A and lateral sclerosis

RNF19A [ENSP00000428968]

E3 ubiquitin-protein ligase RNF19A; E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection. ECO:0000269|PubMed:12145308, ECO:0000269|PubMed:12750386,; Belongs to the RBR family. RNF19 subfamily.

Synonyms:  RNF19A,  RNF19Ap,  hRNF19A,  A0A0C4DGD6,  A3KCU8 ...

Linkouts:  STRING  Pharos  UniProt