DMXL2 explained

Dmx-like 2 is a protein that in humans is encoded by the DMXL2 gene.^[1]

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.^[2] 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 syndromehttps://www.ncbi.nlm.nih.gov/medgen/863698, 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

• DmX gene - the homolog in D. melanogaster

Further reading

• Nagano F, Kawabe H, Nakanishi H, Shinohara M, Deguchi-Tawarada M, Takeuchi M, Sasaki T, Takai Y . Rabconnectin-3, a novel protein that binds both GDP/GTP exchange protein and GTPase-activating protein for Rab3 small G protein family . Journal of Biological Chemistry . 277 . 12 . 9629–32 . 2002 . 11809763 . 10.1074/jbc.C100730200 . free .
• Sethi N, Yan Y, Quek D, Schupbach T, Kang Y . Rabconnectin-3 is a functional regulator of mammalian Notch signaling . Journal of Biological Chemistry . 285 . 45 . 34757–64 . 2010 . 20810660 . 2966091 . 10.1074/jbc.M110.158634 . free .
• Luke MM, O'Meara ES, Rowland CM, Shiffman D, Bare LA, Arellano AR, Longstreth WT, Lumley T, Rice K, Tracy RP, Devlin JJ, Psaty BM . Gene variants associated with ischemic stroke: The cardiovascular health study . Stroke . 40 . 2 . 363–8 . 2009 . 19023099 . 2881155 . 10.1161/STROKEAHA.108.521328 .
• Shiffman D, O'Meara ES, Bare LA, Rowland CM, Louie JZ, Arellano AR, Lumley T, Rice K, Iakoubova O, Luke MM, Young BA, Malloy MJ, Kane JP, Ellis SG, Tracy RP, Devlin JJ, Psaty BM . Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study . Arteriosclerosis, Thrombosis, and Vascular Biology . 28 . 1 . 173–9 . 2008 . 17975119 . 2636623 . 10.1161/ATVBAHA.107.153981 .
• Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y . A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter . Genes to Cells . 8 . 6 . 537–46 . 2003 . 12786944 . 10.1046/j.1365-2443.2003.00655.x. free .

Notes and References

1. Web site: Entrez Gene: Dmx-like 2 .
2. 20810660 . 10.1074/jbc.M110.158634 . 2966091 . 285 . Rabconnectin-3 is a functional regulator of mammalian Notch signaling . 2010 . J. Biol. Chem. . 34757–64 . Sethi N, Yan Y, Quek D, Schupbach T, Kang Y. 45 . free .