Short Stature Homeobox Protein (SHOX)
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SS; GCFX; PHOG; SHOXY; Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox-containing protein
 HGNC 10853
 PubMed 19938087
 UniProt O15266
 USCN H861
 Wiki SHOX
Short Stature Homeobox Protein (SHOX)
Short stature homeobox gene or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy.The gene was first found during a search for the cause of short stature in women with Turner syndrome, in which there is loss of genetic material from the X chromosome, classically by loss of one entire X chromosome.SHOX gene has been found to play a role in idiopathic short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. The SHOX gene is a homeobox gene, meaning that it helps regulate development. The SHOX gene is composed of 6 different exons and is located in the pseudoautosomal region (PAR1) of the X chromosome and Y chromosome. Experiments have found similar genes in a variety of animals and insects.
Organism species: Homo sapiens (Human)
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