POU4F1 POU class 4 homeobox 1
Gene ID: 5457, updated on 18-Sep-2024Gene type: protein coding
Also known as: BRN3A; RDC-1; ATITHS; Oct-T1; brn-3A
- See all available tests in GTR for this gene
- Go to complete Gene record for POU4F1
- Go to Variation Viewer for POU4F1 variants
Summary
This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | See labs |
| Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. GeneReviews: Not available |
Genomic context
- Location:
- 13q31.1
- Sequence:
- Chromosome: 13; NC_000013.11 (78598362..78603552, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POU4F1 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
- Variation ViewerRelated Variants
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