Short-stature homeobox gene

The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing 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).

SHOX
Identifiers
Aliases	SHOX, GCFX, PHOG, SHOXY, SS, short stature homeobox
External IDs	OMIM: 312865, 400020; HomoloGene: 55463; GeneCards: SHOX; OMA:SHOX - orthologs
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding protein binding DNA-binding transcription activator activity, RNA polymerase II-specific sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm intracellular membrane-bounded organelle Biological process multicellular organism development skeletal system development regulation of transcription, DNA-templated transcription by RNA polymerase II transcription, DNA-templated positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6473 n/a Ensembl ENSG00000185960 n/a UniProt O15266 n/a RefSeq (mRNA) n/a n/a RefSeq (protein) NP_000442 NP_006874 n/a Location (UCSC) n/a n/a PubMed search [1] n/a
Wikidata
View/Edit Human

Pathology

SHOX was first found during a search for the cause of short stature in women with Turner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome.^[2]

Since its discovery, the gene has been found to play a role in idiopathic short stature, 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 triple X, XYY, Klinefelter, XXYY and similar syndromes.^[3]

Genetics and function

SHOX is composed of 6 different exons and is located in the pseudoautosomal region 1 (PAR1) of the X chromosome (Xp22.33) and Y chromosome.^[2] Since genes in PAR escape X inactivation, their dosage changes with sex chromosome aneuploidies such as Turner.^[4]

Similar genes are present in a variety of animals and insects.

It is a homeobox gene, meaning that it helps to regulate development.