DMXL1 Chromosome 5
Dmx like 1
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What This Gene Does
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. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
"WD repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5q23.1
Ensembl
ENSG00000172869
Associated Conditions (1)
DMXL1-related disorder
Key Variants
RS140340763
Conflicting classifications of pathogenicity
DMXL1-related disorder, DMXL1-related disorder
Health Risk
RS143024499
Conflicting classifications of pathogenicity
Health Risk
RS150186051
Conflicting classifications of pathogenicity
Health Risk
RS200293982
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140340763 | Health Risk | Conflicting classifications of pathogenicity | DMXL1-related disorder, DMXL1-related disorder |
| RS143024499 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150186051 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200293982 | Health Risk | Conflicting classifications of pathogenicity | — |