DMXL2

Description

The DMXL2 (Dmx like 2) is a protein-coding gene located on chromosome 15.

DMXL2, a human gene, encodes a protein with 12 WD domains. These domains are involved in various cellular processes, including signal transduction. DMXL2 has been shown to play a role in regulating the Notch signaling pathway. This gene produces multiple transcript variants encoding different protein isoforms. A related gene is located on chromosome 5. DMXL2 haploinsufficiency causes Polyendocrine-polyneuropathy syndrome and delayed puberty. This is likely due to altered synaptic function in the CNS, particularly affecting GnRH neurons in the hypothalamus.

DMXL2 is also known as DEE81, DFNA71, EIEE81, PEPNS, RC3.

Associated Diseases

• Deafness, autosomal dominant 71
• Polyendocrine-polyneuropathy syndrome
• Epileptic encephalopathy, early infantile, 81
• Early infantile epileptic encephalopathy