Gene Symbol | PRRX1 |
Entrez Gene ID | 5396 |
Full Name | paired related homeobox 1 |
Synonyms | AGOTC,PHOX1,PMX1,PRX-1,PRX1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Agnathia-otocephaly complex, 202650 (3) |