Symbol
| DMRT2
| contributors: np/mct - updated : 29-03-2020
|
HGNC name
| doublesex and mab-3 related transcription factor 2
|
HGNC id
| 2935
|
corresponding disease(s)
|
SRA2
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
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|  
|  
|
mutations in DMRT2 are likely associated with a different (novel) subtype of SCD mainly characterized by severe rib anomalies but lacking clear segmentation defects of the vertebral bodies | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| Dmrt2 knock-out mice exhibit severe rib and vertebral defects |