Gene: PRRX1

Alternate names for this Gene: AGOTC|PHOX1|PMX1|PRX-1|PRX1

Gene Summary: The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.2

Description of this Gene: paired related homeobox 1

Type of Gene: protein-coding

rs12142379 in PRRX1 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 28416818 2017 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

rs2213751 in PRRX1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6693796 in PRRX1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs4656220 in PRRX1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs659580 in PRRX1 gene and Hypertensive disease PMID 22566498 2012 Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.

rs387906667 in PRRX1 gene and Otocephaly PMID 21294718 2011 PRRX1 is mutated in a fetus with agnathia-otocephaly.

rs6693796 in PRRX1 gene and response to simvastatin PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.