DMXL2

Function

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human celines.[6] A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene.

Clinical relevance

Haplosufficiency of Dmxl2 has been identified as the cause of Polyendocrine-polyneuropathy syndrome, and delayed puberty. Research has indicated that this is a result of altered function of CNS synapses (in which the protein product of Dmxl2 is expressed) causing altered activation of the GnRH neurons of the hypothalamus.

See also

References
  1. GRCh38: Ensembl release 89: ENSG00000104093 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000041268 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Dmx-like 2".
  6. Sethi N, Yan Y, Quek D, Schupbach T, Kang Y (2010). "Rabconnectin-3 is a functional regulator of mammalian Notch signaling". J. Biol. Chem. 285: 34757–64. doi:10.1074/jbc.M110.158634. PMC 2966091. PMID 20810660.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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