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]
Function:
Controls fundamental aspects of growth and development.
Subcellular Location:
Nucleus.
Tissue Specificity:
SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver and lung. Highly expressed in osteogenic cells.
DISEASE:
Defects in SHOX are the cause of Leri-Weill dyschondrosteosis (LWD) [MIM:127300].
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) [MIM:249700]. 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) [MIM:300582]. 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.
Similarity:
Belongs to the paired homeobox family. Bicoid subfamily.
Contains 1 homeobox DNA-binding domain.
SWISS:
O15266
Gene ID:
6473
Database links:
Entrez Gene: 615159 Cow
Entrez Gene: 491706 Dog
Entrez Gene: 6473 Human
Omim: 312865 Human
SwissProt: O15266 Human
Unigene: 105932 Human
|
|
