HESX1 HESX homeobox 1
Gene ID: 8820, updated on 3-Apr-2024Gene type: protein coding
Also known as: ANF; RPX; CPHD5
- See all available tests in GTR for this gene
- Go to complete Gene record for HESX1
- Go to Variation Viewer for HESX1 variants
Summary
This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anophthalmia-microphthalmia syndrome MedGen: C5680330GeneReviews: Not available | See labs |
| Septo-optic dysplasia sequence | See labs |
Genomic context
- Location:
- 3p14.3
- Sequence:
- Chromosome: 3; NC_000003.12 (57197838..57227615, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HESX1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HESX1 database
- 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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