| Description : |
This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy. [provided by RefSeq, Jan 2010] |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
55.7 kDa |
| AA Sequence : |
MDCYRTSLSSSWIYPTVILCLFGFF SMMRPSEPFLIPYLSGPDKNLTSAE ITNEIFPVWTYSYLVLLLPVFVLTD YVRYKPVIILQGISFIITWLLLLFG QGVKTMQVVEFFYGMVTAAEVAYYA YIYSVVSPEHYQRVSGYCRSVTLAA YTAGSVLAQLLVSLANMSYFYLNVI SLASVSVAFLFSLFLPMPKKSMFFH AKPSREIKKSSSVNPVLEETHEGEA PGCEEQKPTSEILSTSGKLNKGQLN SLKPSNVTVDVFVQWFQDLKECYSS KRLFYWSLWWAFATAGFNQVLNYVQ ILWDYKAPSQDSSIYNGAVEAIATF GGAVAAFAVGYVKVNWDLLGELALV VFSVVNAGSLFLMHYTANIWACYAG YLIFKSSYMLLITIAVFQIAVNLNV ERYALVFGINTFIALVIQTIMTVIV VDQRGLNLPVSIQFLVYGSYFAVIA GIFLMRSMYITYSTKSQKDVQSPAP SENPDVSHPEEESNIIMSTKLTRTR PLEQKLISEEDLAANDILDYKDDDD KV |
| 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. |
