| Description : |
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
106 kDa |
| AA Sequence : |
MALLGKRCDVPTNGCGPDRWNSAFT RKDEIITSLVSALDSMCSALSKLNA EVACVAVHDESAFVVGTEKGRMFLN ARKELQSDFLRFCRGPPWKDPEAEH PKKVQRGEGGGRSLPRSSLEHGSDV YLLRKMVEEVFDVLYSEALGRASVV PLPYERLLREPGLLAVQGLPEGLAF RRPAEYDPKALMAILEHSHRIRFKL KRPLEDGGRDSKALVELNGVSLIPK GSRDCGLHGQAPKVPPQDLPPTATS SSMASFLYSTALPNHAIRELKQEAP SCPLAPSDLGLSRPMPEPKATGAQD FSDCCGQKPTGPGGPLIQNVHASKR ILFSIVHDKSEKWDAFIKETEDINT LRECVQILFNSRYAEALGLDHMVPV PYRKIACDPEAVEIVGIPDKIPFKR PCTYGVPKLKRILEERHSIHFIIKR MFDERIFTGNKFTKDTTKLEPASPP EDTSAEVSRATVLDLAGNARSDKGS MSEDCGPGTSGELGGLRPIKIEPED LDIIQVTVPDPSPTSEEMTDSMPGH LPSEDSGYGMEMLTDKGLSEDARPE ERPVEDSHGDVIRPLRKQVELLFNT RYAKAIGISEPVKVPYSKFLMHPEE LFVVGLPEGISLRRPNCFGIAKLRK ILEASNSIQFVIKRPELLTEGVKEP IVDSQGTASSLGFSPPALPPERDSG DPLVDESLKRQGFQENYDARLSRID IANTLREQVQDLFNKKYGEALGIKY PVQVPYKRIKSNPGSVIIEGLPPGI PFRKPCTFGSQNLERILAVADKIKF TVTRPFQGLIPKPDEDDANRLGEKV ILREQVKELFNEKYGEALGLNRPVL VPYKLIRDSPDAVEVTGLPDDIPFR NPNTYDIHRLEKILKAREHVRMVII NQLQPFAEICNDAKVPAKDSSIPKR KRKRVSEGNSVSSSSSSSSSSSSNP DSVASANQISLVQWPMYMVDYAGLN VQLPGPLNYTRTRPLEQKLISEEDL AANDILDYKDDDDKV |
| 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. |
