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SHOX short stature homeobox [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000451 Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_006883 Homo sapiens short stature homeobox (SHOX), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Gene Symbol SHOX
Entrez Gene ID 6473
Full Name short stature homeobox
Synonyms GCFX, PHOG, SHOXY, SS
General protein information
Preferred Names
short stature homeobox protein
Names
short stature homeobox protein
growth control factor, X-linked
pseudoautosomal homeobox-containing osteogenic protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X|Y

Xp22.33;Yp11.3

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].
Disorder

MIM: 400020

Short stature, idiopathic familial, 300582 (3); Leri-Weill

mRNA Protein Product Sequence Price Select
NM_000451, 89257355 NP_000442, 4506943 short stature homeobox protein isoform SHOXa ORF Sequence $300.00
NM_006883, 89257356 NP_006874, 6031203 short stature homeobox protein isoform SHOXb ORF Sequence $250.00
Homo sapiens (human)SHOXNP_000442.1
Canis lupus familiaris (dog)SHOXNP_001020793.1
Bos taurus (cattle)SHOXNP_001178475.1
Gallus gallus (chicken)SHOXNP_001073192.1
Danio rerio (zebrafish)shoxNP_001119883.1
Xenopus (Silurana) tropicalis (western clawed frog)shoxXP_004911874.1
Process
IDNameEvidence
GO:0001501skeletal system developmentTAS
GO:0006355regulation of transcription, DNA-templatedIEA
GO:0006366transcription from RNA polymerase II promoterTAS
Component
IDNameEvidence
GO:0005634nucleusIEA
Function
IDNameEvidence
GO:0000976transcription regulatory region sequence-specific DNA bindingIEA
GO:0003700sequence-specific DNA binding transcription factor activityIEA
GO:0005515protein bindingIPI
GeneCards SHOX
UniProt O15266
MIM 400020
Ensembl ENSG00000185960
HGNC 10853
HPRD 02430

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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