MKRN3
Function
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
Involvement in disease
Precocious puberty, central 2
CPPB2
A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Tissue Specificity
Ubiquitous.
Alternative names
D15S9, RNF63, ZNF127, MKRN3, Probable E3 ubiquitin-protein ligase makorin-3, RING finger protein 63, RING-type E3 ubiquitin transferase makorin-3, Zinc finger protein 127