SLC19A3 (NM_025243) Human Tagged ORF Clone Lentiviral Particle
- LentiORF®
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Specifications
| Product Data | |
| Type | Human Tagged ORF Clone Lentiviral Particle |
|---|---|
| Tag | Myc-DDK |
| Target Symbol | SLC19A3 |
| Synonyms | BBGD; THMD2; thTr-2; THTR2 |
| Vector | pLenti-C-Myc-DDK-P2A-Puro |
| Mammalian Cell Selection | Puromycin |
| Sequence Data | |
| ACCN | NM_025243 |
| ORF Size | 1488 bp |
| OTI Disclaimer | The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info |
| OTI Annotation | This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene. |
| Shipping | Dry Ice |
| Reference Data | |
| RefSeq | NM_025243.3 |
| RefSeq Size | 3775 bp |
| RefSeq ORF | 1491 bp |
| Locus ID | 80704 |
| UniProt ID | Q9BZV2 |
| Cytogenetics | 2q36.3 |
| Domains | Folate_carrier |
| Protein Families | Transmembrane |
| MW | 55.7 kDa |
| Summary | 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 |
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