Short stature homeobox gene

Short stature homeobox
Identifiers
Symbols	SHOX ; GCFX; PHOG; SHOXY; SS
External IDs	OMIM: 400020 HomoloGene: 55463 GeneCards: SHOX Gene
Gene ontology Molecular function • sequence-specific DNA binding transcription factor activity • protein binding • sequence-specific DNA binding Cellular component • nucleus Biological process • skeletal system development • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
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: 0.62 – 0.66 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

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.

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.

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

External links

• short stature homeobox protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• GeneReview/NCBI/NIH/UW entry on SHOX-Related Haploinsufficiency Disorders