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DMXL2 encodes a protein with 12 WD domains.
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Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in humans and mice.
an important role for Rabconnectin-3 and V-ATPase (show ATP6V1H ELISA Kits) activity in the Notch (show NOTCH1 ELISA Kits) signaling pathway in mammalian cells.
The DMXL2 interactome, was studied.
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 cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene.
dmX-like protein 2