The mkrn3 protein is an E3 ubiquitin ligase. It is expressed in the developing brain at the midbrain-hindbrain boundary, in the retina, and in branchial arches during embryogenesis. Its function involv...[+]

The mkrn3 protein is an E3 ubiquitin ligase. It is expressed in the developing brain at the midbrain-hindbrain boundary, in the retina, and in branchial arches during embryogenesis. Its function involves promoting the degradation of specific target proteins through ubiquitination. It plays a role in regulating brain development, eye formation, neural crest cell migration, and craniofacial development. The protein localizes to both the cytoplasm and the nucleus. [-]

             central precocious puberty 2

          PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2

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