MKRN3

MKRN3 or Makorin ring finger protein 3 is a protein that in humans is encoded by the MKRN3 gene. It is a member of the Makorin family of RING finger proteins.

Function

MKRN3 is an imprinted gene, expressed only from the paternal allele, and is thought to play a role in puberty. Mutations in this gene have been associated with central precocious puberty, a condition characterized by the early onset of puberty.

Structure

The MKRN3 gene is located on the long (q) arm of chromosome 15 at position 11.2. The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. This protein also contains a zinc finger domain.

Clinical significance

Mutations in the MKRN3 gene have been associated with central precocious puberty. This condition causes children to develop signs of puberty at an unusually early age. Studies have shown that loss-of-function mutations in the MKRN3 gene are a common cause of familial central precocious puberty.

Research

Research into the MKRN3 gene and its associated protein is ongoing, with studies focusing on its role in the onset of puberty and its potential involvement in other endocrine disorders.

See also

• Makorin
• RING finger domain
• Zinc finger
• Chromosome 15
• Precocious puberty