Recombinant Human Thiamine Transporter 1 (SLC19A2) Protein (His&Myc)

Name: Recombinant Human Thiamine Transporter 1 (SLC19A2) Protein (His&Myc)
Brand: Beta LifeScience
SKU: BLC-06660P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Thiamine Transporter 1 (SLC19A2) Protein (His&Myc) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	O60779
Target Symbol	SLC19A2
Synonyms	(ThTr-1)(ThTr1)(Solute carrier family 19 member 2)(Thiamine carrier 1)(TC1)
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His&C-Myc
Target Protein Sequence	LFFHHIPSTCQRVNGIKVQNGGIVTDTPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSR
Expression Range	215-293aa
Protein Length	Partial
Mol. Weight	16.5 kDa
Research Area	Others
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	High-affinity transporter for the intake of thiamine.
Subcellular Location	Cell membrane; Multi-pass membrane protein.
Protein Families	Reduced folate carrier (RFC) transporter (TC 2.A.48) family
Database References	HGNC: 10938 OMIM: 249270 KEGG: hsa:10560 STRING: 9606.ENSP00000236137 UniGene: PMID: 28371426 A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.( PMID: 29969779 A novel homozygous SLC19A2 gene mutation c.[205G>T], p.[(Val69Phe)] causing thiamine responsive megaloblastic anemia syndrome. PMID: 25707023 Individuals with genotype A80A for the SLC19A1 gene have a poor absorption of folate, altering the metabolism of folate and compromising the process of cell division promoting development of neuroblastoma. PMID: 24771227 The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome. PMID: 24357267 the novel SLC19A2 mutation reported here may have contributed to the patient's psychotic manifestations by an unknown mechanism PMID: 24520986 Missense mutations were found in the SLC19A2 gene of 4 Chinese patients with thiamine responsive megaloblastic anemia. PMID: 24355766 Here we describe for the first time Leber's congenital amaurosis as the retinal phenotype and also report a novel point mutation in the SLC19A2 gene that co-segregated with the disease in a thiamine responsive megaloblastic anemia patient. PMID: 23638917 Allelic expression imbalance confirmed that cis variation at the human SLC35F3 locus influenced expression of that gene, and the allelic expression imbalance peak coincided with the hypertension peak. PMID: 24509276 study presents three thiamine-responsive megaloblastic anemia patients with a novel missense mutation in the SLC19A2 gene (c.382 G>A (p.E128K)). Administration of thiamine in patients with TRMA ameliorates the megaloblastic anemia and diabetes mellitus. PMID: 24072090 These findings demonstrate that the genes involved in dictating thiamine homeostasis, such as SLC19A2, SLC25A19 and TPK-1, were significantly up-regulated in clinical tissues and breast cancer cell lines. PMID: 23642734 study identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in the SLC19A2 gene in two sisters with thiamine responsive megaloblastic anemia PMID: 23289844 Glucose-induced decreased expression of thiamine transporters in the tubular epithelium may mediate renal mishandling of thiamine in diabetes. PMID: 23285265 Thiamine transporter 2 deficiency is a recessive disease caused by mutations in the SLC19A3 genes. PMID: 23589815 A non-sense mutation SLC19A2 was found in four patients with Thiamine-responsive megaloblastic anemia, indicating its high frequency in Persian population. PMID: 23454484 Thiamine-responsive megaloblastic anaemia (TRMA), due to mutations in the thiamine transporter SLC19A2, is associated with the classical clinical triad of diabetes, deafness, and megaloblastic anaemia. PMID: 22369132 Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A. PMID: 22876572 Data show that MTHFR 677C>T and MTRR 66A>G polymorphisms are two independent risk factors for DS pregnancies in young women, but RFC-1 80G>A and MTR 2756A>G polymorphism are not independent risk factor. PMID: 20466634 No SLC25A38 mutations were found among sixty CSA probands examined PMID: 19731322 the effect of mutations in SLC19A2 identical to those found in thiamine-responsive megaloblastic anemia syndrome (TRMA), on functional activity and membrane expression of the transporter. PMID: 12065289 insertion of the thiamine transporter 1 linkers into reduced folate carrier (D215-R263 Delta) at position 215 restored 60-80% of wild-type levels of transport PMID: 12227830 correlate structure with cellular expression profile and reveal a critical dependence on backbone integrity and microtubule-based trafficking processes for functional expression PMID: 12454006 the importance of GKLF, NF-1, and SP-1 in regulating the activity of the SLC19A2 promoter PMID: 12900388 hTHTR-2 is expressed along the human gastrointestinal tract and that expression of its protein in intestinal epithelia is mainly localized to the apical brush-border membrane domain PMID: 14615284 this functional characterization of the D93H mutation of THTR1 provides a molecular basis for Rogers syndrome PMID: 14622275 Missense mutation in the SLC19A2 gene is associated with thiamine-responsive megaloblastic anemia syndrome PMID: 14994241 Findings indicate that the RFC1 genotype is a possible susceptible gene marker for an increased neural tube defects risk in Chinese population. PMID: 15952116 Three genetic variants of SLC19A2 gene were identified in Wernicke Korsakoff syndrome patients. PMID: 16015585 differentiation of intestinal epithelial cells is associated with an up-regulation in thiamin uptake process which is mediated via transcriptional regulatory mechanisms that involve the SLC19A2 and SLC19A3 genes PMID: 16055442 analysis of targeting and trafficking of hTHTR1 and hTHTR2 in epithelial cells PMID: 16371350 We have identified a novel missense mutation (T158R) that was excluded in 100 control alleles. PMID: 16373304 Thiamine uptake by HEK-293 cells is mediated via a specific pH-dependent process, which involves both the hTHTR-1 and hTHTR-2. PMID: 16705148 results show spectrum of mutant phenotypes, underlining that thiamine-responsive megaloblastic anaemia can result from decreased thiamine transport underpinned by changes in THTR1 expression levels, cellular targeting and/or protein transport activity PMID: 17331069 THTR1 is involved in thiamine transport by retinal pigment epithelium. Mutations found in thiamine-responsive megaloblastic anemia impaired THTR1 expression/function. PMID: 17463047 Three infants with thiamine-responsive megaloblastic anemia were homozygous, and the parents were heterozygous for a c.196G>T mutation in the SLC19A2 gene on chromosome 1q23.3, which encodes a high-affinity thiamine transporter. PMID: 17659067 findings suggest that the RFC G80A polymorphism may influence outcome in childhood ALL patients being treated with methotrexate PMID: 19340000 Pancreatic beta cells and islets take up thiamine by a regulated THTR1/2-mediated process. PMID: 19423748

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.