Sequence in raw or FASTA format:
SHOX short stature homeobox [Homo sapiens (human)]
|Entrez Gene ID||6473|
|Full Name||short stature homeobox|
|Synonyms||GCFX, PHOG, SHOXY, SS|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008].|
Short stature, idiopathic familial, 300582 (3); Leri-Weill
|Homo sapiens (human)||SHOX||NP_000442.1|
|Canis lupus familiaris (dog)||SHOX||NP_001020793.1|
|Bos taurus (cattle)||SHOX||NP_001178475.1|
|Gallus gallus (chicken)||SHOX||NP_001073192.1|
|Danio rerio (zebrafish)||shox||NP_001119883.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||shox||XP_004911874.1|
|GO:0001501||skeletal system development||TAS|
|GO:0006355||regulation of transcription, DNA-templated||IEA|
|GO:0006366||transcription from RNA polymerase II promoter||TAS|
|GO:0000976||transcription regulatory region sequence-specific DNA binding||IEA|
|GO:0003700||sequence-specific DNA binding transcription factor activity||IEA|
What is the normal function of the SHOX gene?
The SHOX gene provides instructions for making a protein that regulates the activity of other genes. On the basis of this role, the SHOX protein is called a transcription factor. The SHOX gene is part of a large family of homeobox genes, which act during early embryonic development to control the formation of many body structures. Specifically, the SHOX gene is essential for the development of the skeleton. It plays a particularly important role in the growth and maturation of bones in the arms and legs.
One copy of the SHOX gene is located on each of the sex chromosomes (the X and Y chromosomes) in an area called the pseudoautosomal region. Although many genes are unique to either the X or Y chromosome, genes in the pseudoautosomal region are present on both chromosomes. As a result, both females (who have two X chromosomes) and males (who have one X and one Y chromosome) have two functional copies of the SHOX gene in each cell.
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