Short Stature Homeobox Protein (SHOX)


SS; GCFX; PHOG; SHOXY; Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox-containing protein

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)

Proteins n/a Recombinant Short Stature Homeobox Protein (SHOX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Short Stature Homeobox Protein (SHOX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Short Stature Homeobox Protein (SHOX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Short Stature Homeobox Protein (SHOX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Short Stature Homeobox Protein (SHOX) ELISA Kit Customized Service Offer
  1. "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome."Nat. Genet. 16:54-63(1997) [PubMed] [Europe PMC] [Abstract]
  2. "PHOG, a candidate gene for involvement in the short stature of Turner syndrome."Hum. Mol. Genet. 6:1341-1347(1997) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia."Hum. Genet. 107:145-149(2000) [PubMed] [Europe PMC] [Abstract]
  5. "Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)."Am. J. Med. Genet. 106:272-274(2001) [PubMed] [Europe PMC] [Abstract]
  6. "SHOX point mutations in dyschondrosteosis."J. Med. Genet. 38:323-323(2001) [PubMed] [Europe PMC] [Abstract]
  7. "SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features."J. Clin. Endocrinol. Metab. 87:1390-1394(2002) [PubMed] [Europe PMC] [Abstract]