SHOX gene

SHOX

Identifiers

SHOX, GCFX, PHOG, SHOXY, SS, short stature homeobox

External IDs

Gene ontology
Molecular function	• transcription factor activity, sequence-specific DNA binding • DNA binding • protein binding • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding • sequence-specific DNA binding
Cellular component	• nucleus • nucleoplasm • intracellular membrane-bounded organelle
Biological process	• multicellular organism development • skeletal system development • regulation of transcription, DNA-templated • transcription from RNA polymerase II promoter • transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


6473


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Ensembl


ENSG00000185960


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UniProt


O15266


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RefSeq (mRNA)


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RefSeq (protein)


NP_000442 NP_006874


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Location (UCSC)

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PubMed search

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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).

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.

The SHOX gene is composed of 6 different exons and is located in the pseudoautosomal region (PAR1) of the X chromosome (Xp22.33) and Y chromosome. Similar genes are present in a variety of animals and insects.

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Wikipedia