DMXL1

DMXL1 (Dmx Like 1) is a protein coding gene.The protein is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. Diseases associated with DMXL1 include Retinitis Pigmentosa 69 and Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency