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FLASH GENE
Symbol PITX1 contributors: mct/npt - updated : 06-11-2011
HGNC name paired-like homeodomain 1
HGNC id 9004
ASSOCIATED DISORDERS
corresponding disease(s) THCF , DEL5Q31.1 , LBNBG
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in patients with FSHD
constitutional   deletion    
results in micrognathia and abnormal morphology of the mandibular molars (Mitsiadis 2008)
constitutional   deletion --low  
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, .
constitutional     --over  
upon exposure to genotoxic stress, is associated with marked induction of apoptosis that is independent of TP53 status
Susceptibility
Variant & Polymorphism
Candidate gene club feet, skeletal anomalies, cleft/high palate in del5q31 patients
Marker
Therapy target
ANIMAL & CELL MODELS