PRRX1 paired related homeobox 1
Gene ID: 5396, updated on 27-Nov-2024Gene type: protein coding
Also known as: PMX1; PRX1; AGOTC; PHOX1; PRX-1
- See all available tests in GTR for this gene
- Go to complete Gene record for PRRX1
- Go to Variation Viewer for PRRX1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Agnathia-otocephaly complex | See labs |
| Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. GeneReviews: Not available | |
| Meta-analysis identifies six new susceptibility loci for atrial fibrillation. GeneReviews: Not available |
Genomic context
- Location:
- 1q24.2
- Sequence:
- Chromosome: 1; NC_000001.11 (170662768..170739421)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRRX1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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