| Description : |
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
52.5 kDa |
| AA Sequence : |
MHFSTVTRDMEAFTASSLSSLGAAG GFPGAASPGADPYGPREPPPPPRYD PCAAAAPGAPGPPPPPHAYPFAPAA GAATSAAAEPEGPGASCAAAAKAPV KKNAKVAGVSVQLEMKALWDEFNQL GTEMIVTKAGRRMFPTFQVKLFGMD PMADYMLLMDFVPVDDKRYRYAFHS SSWLVAGKADPATPGRVHYHPDSPA KGAQWMKQIVSFDKLKLTNNLLDDN GHIILNSMHRYQPRFHVVYVDPRKD SEKYAEENFKTFVFEETRFTAVTAY QNHRITQLKIASNPFAKGFRDCDPE DWPRNHRPGALPLMSAFARSRNPVA SPTQPSGTEKDAAEARREFQRDAGG PAVLGDPAHPPQLLARVLSPSLPGA GGAGGLVPLPGAPGGRPSPPNPELR LEAPGASEPLHHHPYKYPAAAYDHY LGAKSRPAPYPLPGLRGHGYHPHAH PHHHHHPVSPAAAAAAAAAAAAAAA NMYSSAGAAPPGSYDYCPRTRTRPL EQKLISEEDLAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
