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FLASH GENE
Symbol DLX6 contributors: npt/mct - updated : 02-04-2019
HGNC name distal-less homeobox 6
HGNC id 2919
ASSOCIATED DISORDERS
corresponding disease(s) SHFM1 , DEL7Q21
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in endometriotic lesions
tumoral     --over  
in endometriod adenocarcinomas
Susceptibility to autistic spectrum disorder (ASD)
Variant & Polymorphism other a G656A base change (R219H) associted with ASD
Candidate gene
Marker
Therapy target
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