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FLASH GENE
Symbol DLX5 contributors: mct/npt/pgu - updated : 03-04-2019
HGNC name distal-less homeobox 5
HGNC id 2918
ASSOCIATED DISORDERS
corresponding disease(s) SHFM1 , DEL7Q21
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
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
ANIMAL & CELL MODELS
  • 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