Recombinant Human SHOX2 cell lysate
- Specification
- Gene Information
- Related Products
| Description : |
This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. |
| Species : |
Human |
| Size : |
100 ul |
| Storage Buffer : |
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue) |
| Applications : |
Western Blot; |
| Gene Name : |
SHOX2 short stature homeobox 2 [ Homo sapiens ] |
| Official Symbol : |
SHOX2 |
| Synonyms : |
SHOX2; short stature homeobox 2; short stature homeobox protein 2; OG12; OG12X; SHOT; homeobox protein Og12X; SHOX homologous gene on chromosome 3; paired-related homeobox protein SHOT; |
| Gene ID : |
6474 |
| mRNA Refseq : |
NM_001163678 |
| Protein Refseq : |
NP_001157150 |
| MIM : |
602504 |
| UniProt ID : |
O60902 |
| Chromosome Location : |
3q25.32 |
| Function : |
transcription regulatory region sequence-specific DNA binding; |
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
