Short Stature Homeobox Protein
A homeodomain protein that is highly expressed in the nuclei of skeletal muscle, bone marrow, and osteogenic cells and has critical roles in growth and development. Its gene resides within PSEUDOAUTOSOMAL REGION 1 of X and Y chromosomes and mutations are associated with several growth disorders including LERI-WEIL SYNDROME; LANGER MESOMELIC DYSPLASIA; and SHORT STATURE, IDIOPATHIC, X-LINKED.
Year introduced: 2018
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Subheadings:
Tree Number(s): D12.776.260.400.859
MeSH Unique ID: D000074122
Entry Terms:
- SHOX Protein
- GCFX Protein
- SHOXY Protein
- PHOG Protein
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