Symbol
| DLX5
| contributors: mct/npt/pgu - updated : 03-04-2019
|
HGNC name
| distal-less homeobox 5
|
HGNC id
| 2918
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
| LOI
|  
|  
|
dysregulated (LOI) by mutations of MECP2 in Rett syndrome | tumoral
|  
|  
| --over
|  
|
in endometriod adenocarcinomas | constitutional
|  
|  
| --low
|  
|
in endometriotic lesions | constitutional
|  
|  
|  
| gain of function
|
in 70p100 of preeclamptic placentas | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | | | |
because of a restricted pattern of expression in adult tissues, it may serve as a potential therapeutic target for the treatment of cancers that overexpress it |
| | | |
| Dlx5/Dlx6 double mutants exhibit hindlimb ectrodactyly | |
Dlx5/6-inactivation in the mouse results in a phenotype reminiscent of NTDs characterized by open thoracic and lumbar vertebral arches and failure of epaxial muscle formation at the dorsal midline |