PAX1 paired box 1
Gene ID: 5075, updated on 17-Mar-2024Gene type: protein coding
Also known as: OFC2; HUP48
- See all available tests in GTR for this gene
- Go to complete Gene record for PAX1
- Go to Variation Viewer for PAX1 variants
Summary
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Male-pattern baldness susceptibility locus at 20p11. GeneReviews: Not available | |
Otofaciocervical syndrome 2 | See labs |
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. GeneReviews: Not available | |
Susceptibility variants for male-pattern baldness on chromosome 20p11. GeneReviews: Not available |
Genomic context
- Location:
- 20p11.22
- Sequence:
- Chromosome: 20; NC_000020.11 (21705664..21718481)
- Total number of exons:
- 5
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PAX1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- 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
- SNP: GeneViewSNPs linked from GeneView
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