Gene: DMXL1

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.1

Description of this Gene: Dmx like 1

Type of Gene: protein-coding

rs116348108 in DMXL1 gene and Alzheimer's Disease PMID 23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.

rs7727906 in DMXL1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.