Short stature homeobox gene

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Short stature homeobox
Identifiers
Symbols SHOX ; GCFX; PHOG; SHOXY; SS
External IDs OMIM400020 HomoloGene55463 GeneCards: SHOX Gene
Orthologs
Species Human Mouse
Entrez 6473 n/a
Ensembl ENSG00000185960 n/a
UniProt O15266 n/a
RefSeq (mRNA) NM_000451 n/a
RefSeq (protein) NP_000442 n/a
Location (UCSC) Chr X:
0.59 – 0.62 Mb
n/a
PubMed search [1] n/a

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[edit]

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.[1]

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.[2]

Function[edit]

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

References[edit]

  1. ^ a b "SHOX - short stature homeobox - Genetics Home Reference". U.S. National Library of Medicine. 2005-09-01. Retrieved 2008-02-18. 
  2. ^ 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[edit]

External links[edit]