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Symbol PITX3 contributors: mct - updated : 27-03-2019
HGNC name paired-like homeodomain 3
HGNC id 9006
corresponding disease(s) ASMD2 , CTPP2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in patients with Parkinson disease
Susceptibility to PD dementia (PDD) and visuospatial dysfunction in idiopathic Parkinson disease (PD)
Variant & Polymorphism SNP
  • common polymorphism in the PITX3 gene affects the risk of developing PD dementia (PDD) and visuospatial dysfunction in idiopathic Parkinson disease (PD)
  • Candidate gene
  • PITX3 DNA methylation is an independent prognostic biomarker for overall survival in patients with head and neck squamous cell carcinoma
  • Therapy target
  • lack of Pitx3 in mice causes the preferential loss of substantia nigra pars compacta (SNc) mdDA neurons that are most affected in Parkinson disease
  • Pitx3-deficient mice exhibit severe but selective developmental loss of mDA neurons, with accompanying locomotor deficits resembling those seen in Parkinson's disease (PD) models
  • expression of truncated Pitx3 in the developing lens leads to microphthalmia and aphakia in mice
  • Pitx3(-/-) mice displayed abnormal motor activities, including impaired motor coordination and decreased locomotion