The rnf123 gene encodes an E3 ubiquitin ligase protein containing a RING domain which is expressed in the brain and spinal cord during development; it functions to regulate cell proliferation by target...[+]

The rnf123 gene encodes an E3 ubiquitin ligase protein containing a RING domain which is expressed in the brain and spinal cord during development; it functions to regulate cell proliferation by targeting specific proteins for proteasomal degradation, with expression also detected in the eye and cranial ganglia. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD