MKRN3 gene

makorin ring finger protein 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]

From UniProt:

E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

From NCBI Gene:

  • Precocious puberty, central, 2
  • Prader-Willi syndrome

From UniProt:

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. [MIM:615346]

Cytogenetic Location: 15q11-q13, which is the long (q) arm of chromosome 15 between positions 11 and 13

Molecular Location: base pairs 23,565,307 to 23,568,020 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q11-q13, which is the long (q) arm of chromosome 15 between positions 11 and 13
  • CPPB2
  • D15S9
  • RNF63
  • ZFP127
  • ZNF127