rs387906667
This is a variant in the PRRX1 gene that changes a phenylalanine to an serine.
▶ClinVar annotation
About PRRX1
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]
View all PRRX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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