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FLASH GENE
Symbol PRRX1 contributors: mct - updated : 22-08-2012
HGNC name paired related homeobox 1
HGNC id 9142
ASSOCIATED DISORDERS
corresponding disease(s) AGOTC
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
NUP98-PRRX1, had potent ability to impair differentiation, promote proliferation of myeloid progenitors, induce lethal myeloproliferative disease and to activate a number of genes previously linked to leukemic stem cells
constitutional     --over  
may promote TGF&946; activity in adipose tissue and thereby contribute to aberrant adipocyte function during obesity
Susceptibility
Variant & Polymorphism
Candidate gene potential candidate for the non syndromic deafness modifier locus; for brachydactyly type E in del 1q24q25
Marker
  • uncouples EMT and stemness, and is a biomarker associated with patient survival and lack of metastasis in cancer
  • Therapy target
    ANIMAL & CELL MODELS
  • loss of function mutation in the mouse Pmx1 gene
  • Homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis
  • mice lacking Prrx1 die postnatally and have impaired formation of osteogenic and chondrogenic progenitors, resulting in defective skeletogenesis