SHOX SHOX homeobox
Gene ID: 6473, updated on 27-Nov-2024Gene type: protein coding
Also known as: SS; GCFX; PHOG; SHOX1; SHOXY
- See all available tests in GTR for this gene
- Go to complete Gene record for SHOX
- Go to Variation Viewer for SHOX variants
Summary
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Langer mesomelic dysplasia syndrome | not available |
| Leri-Weill dyschondrosteosis | not available |
| SHOX-related short stature | not available |
Genomic context
- Location:
- X;Y
- Sequence:
- Chromosome: X; NC_000023.11 (624344..659411)
- Chromosome: Y; NC_000024.10 (624344..659411)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SHOX 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
- SHOX @ LOVD
- Variation ViewerRelated Variants
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