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DMXL2 encodes a protein with 12 WD domains.
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Data indicated that the p.Arg2417His variant in DMXL2 is associated with dominant, nonsyndromic hearing loss and suggested an important role of DMXL2 in inner ear function.
authors demonstrate that DMXL2 is a transmembrane protein with a potential extra-cellular domain. These findings identify DMXL2 as a novel, functional biomarker for ERalpha (show ESR1 ELISA Kits) positive breast cancer.
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 activity in the Notch (show NOTCH1 ELISA Kits) signaling pathway in mammalian cells.
Data provide evidence that DMXL2 plays an important role in the inner ear function.
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