PITX1 paired like homeodomain 1
Gene ID: 5307, updated on 20-Apr-2024Gene type: protein coding
Also known as: BFT; CCF; POTX; PTX1; LBNBG
- See all available tests in GTR for this gene
- Go to complete Gene record for PITX1
- Go to Variation Viewer for PITX1 variants
Summary
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. GeneReviews: Not available | |
| Clubfoot | See labs |
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. GeneReviews: Not available | |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available |
Genomic context
- Location:
- 5q31.1
- Sequence:
- Chromosome: 5; NC_000005.10 (135027734..135034789, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PITX1 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
- PITX1 database
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.