PRRX1 Chromosome 1
Paired related homeobox 1
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
1q24.2
Ensembl
ENSG00000116132
Associated Conditions (1)
Agnathia-otocephaly complex
Key Variants
RS1655023196
Likely pathogenic
Agnathia-otocephaly complex, Agnathia-otocephaly complex
Health Risk
RS1571354325
Pathogenic
Agnathia-otocephaly complex, Agnathia-otocephaly complex
Health Risk
RS387906667
Pathogenic
Agnathia-otocephaly complex, Agnathia-otocephaly complex
Health Risk
RS398122375
Pathogenic
Agnathia-otocephaly complex, Agnathia-otocephaly complex, Agnathia-otocephaly complex
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1655023196 | Health Risk | Likely pathogenic | Agnathia-otocephaly complex, Agnathia-otocephaly complex |
| RS1571354325 | Health Risk | Pathogenic | Agnathia-otocephaly complex, Agnathia-otocephaly complex |
| RS387906667 | Health Risk | Pathogenic | Agnathia-otocephaly complex, Agnathia-otocephaly complex |
| RS398122375 | Health Risk | Pathogenic | Agnathia-otocephaly complex, Agnathia-otocephaly complex, Agnathia-otocephaly complex |