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SHOX
Controls fundamental aspects of growth and development. Defects in SHOX are the cause of Leri-Weill dyschondrosteosis (LWD). LWD is a dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. Defects in SHOX are a cause of Langer mesomelic dysplasia (LMD). LMD is an autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date. Defects in SHOX are a cause of idiopathic short stature (ISS). Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations of national height standards in the absence of specific causative disorders. Belongs to the paired homeobox family. Bicoid subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Transcription factor; DNA binding protein |
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Cellular Component: nucleus
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Molecular Function: protein binding; transcription factor activity
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Biological Process: transcription from RNA polymerase II promoter; skeletal development
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Reference #:
O15266 (UniProtKB)
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| Alt. Names/Synonyms: GCFX; growth control factor, X-linked; PHOG; Pseudoautosomal homeobox-containing osteogenic protein; short stature homeobox; Short stature homeobox protein; Short stature homeobox-containing protein; SHOX; SHOXY; SS |
| Gene Symbols: SHOX |
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Molecular weight: 32,236 Da
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Basal Isoelectric point: 7.23
Predict pI for various phosphorylation states
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