FIGURE
Fig. 6
- ID
- ZDB-FIG-191230-1528
- Publication
- Wagner et al., 2019 - Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
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Fig. 6
RNF170-dependent degradation of activated IP3R and genetic disorders affecting this pathway. Upon activation of the IP3R with IP3, calcium is released from the ER into the cytoplasm. This triggers the association of IP3R with the ERLIN1/2 complex leading to the ubiquitination of IP3R by the E3 ubiquitin ligase RNF170, resulting in the proteasomal degradation of IP3R. Mutations in all genes encoding components of this pathway are known to cause hereditary neurologic disorders, especially spastic paraplegia and spinocerebellar ataxia |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
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Full text @ Nat. Commun.