Short stature homeobox gene

SHOX
Identifiers
Aliases SHOX, GCFX, PHOG, SHOXY, SS, short stature homeobox
External IDs HomoloGene: 55463 GeneCards: SHOX
Orthologs
Species Human Mouse
Entrez

6473

n/a

Ensembl

ENSG00000185960

n/a

UniProt

O15266

n/a

RefSeq (mRNA)

NM_006883
NM_000451

n/a

RefSeq (protein)

NP_000442.1
NP_006874.1

n/a

Location (UCSC) Chr X: 0.62 – 0.66 Mb n/a
PubMed search [1] n/a
Wikidata
View/Edit Human

The short stature homeobox (SHOX) gene is a gene, located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).

Pathology

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.[2]

Since its discovery, the SHOX gene has been found to play a role in idiopathic short stature (short stature of unknown cause without other symptoms), Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.

Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as 47,XXX, 47,XYY, 47,XXY, 48,XXYY, etc.[3]

Function

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.[2] Experiments have found similar genes in a variety of animals and insects.

References

  1. "Human PubMed Reference:".
  2. 1 2 "SHOX - short stature homeobox - Genetics Home Reference". U.S. National Library of Medicine. 2005-09-01. Retrieved 2008-02-18.
  3. Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G (2004). "Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes". Horm. Res. 61 (5): 205–10. doi:10.1159/000076532. PMID 14752208.

Further reading

This article is issued from Wikipedia - version of the 6/5/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.