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FLASH GENE

Symbol

PRRX1

contributors: mct - updated : 22-08-2012

HGNC name	paired related homeobox 1
HGNC id	9142

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AGOTC

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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