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FLASH GENE

Symbol

PITX3

contributors: mct - updated : 27-03-2019

HGNC name	paired-like homeodomain 3
HGNC id	9006

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ASMD2 , CTPP2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
Marker	PITX3 DNA methylation is an independent prognostic biomarker for overall survival in patients with head and neck squamous cell carcinoma
Therapy target

ANIMAL & CELL MODELS

	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