Aliases:This biomarker is also known as:
- short stature homeobox protein 2,
- short stature homeobox 2,
- Paired-related homeobox protein SHOT,
- Homeobox protein Og12X,
- SHOX homologous gene on chromosome 3,
SHOX2 is a member of the homeobox family of genes. These genes are transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. The SHOX2 family encodes proteins containing a 60-amino acid residue motif that represents a DNA binding domain. SHOX2 may be a growth regulator involved in idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. There are several transcript variants as a result of alternative splicing.
|QA State:||Under Review|
There are no datasets associated with this biomarker.