SHOX short stature homeobox [Homo sapiens (human)]
| Gene Symbol | SHOX |
| Entrez Gene ID | 6473 |
| Full Name | short stature homeobox |
| Synonyms | GCFX, PHOG, SHOXY, SS |
| 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]. |
| Disorder | MIM: 400020 Short stature, idiopathic familial, 300582 (3); Leri-Weill |
| mRNA | NM_000451, 89257355 |
| Protein | NP_000442, 4506943 |
| Product | short stature homeobox protein isoform SHOXa |
| RefSeq Status | REVIEWED |
| mRNA | NM_006883, 89257356 |
| Protein | NP_006874, 6031203 |
| Product | short stature homeobox protein isoform SHOXb |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | SHOX | NP_000442.1 |
| Canis lupus familiaris (dog) | SHOX | XP_855626.1 |
| Bos taurus (cattle) | SHOX | XP_869535.2 |
| Danio rerio (zebrafish) | shox | NP_001119883.1 |
| ID | Name | Evidence |
| GO:0001501 | skeletal system development | TAS |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0006366 | transcription from RNA polymerase II promoter | TAS |
| GO:0007275 | multicellular organismal development | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
Function
| ID | Name | Evidence |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IEA |
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