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Mouse Anti-SLC19A3 Recombinant Antibody (CBXS-3020) (CBMAB-S5766-CQ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXS-3020
Antibody Isotype
IgG1, κ
Application
ELISA

Basic Information

Immunogen
Partial recombinant corresponding to aa191-278 from human SLC19A3 (NP_079519) with GST tag
Specificity
Human
Antibody Isotype
IgG1, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.2
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
solute carrier family 19, member 3
Introduction
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.
Entrez Gene ID
80704
UniProt ID
Q9BZV2
Alternative Names
Solute Carrier Family 19 Member 3; Solute Carrier Family 19 (Thiamine Transporter), Member 3; Thiamine Transporter 2; ThTr-2; THTR2; Solute Carrier Family 19, Member 3; THMD2; BBGD;
Function
Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity.
Biological Process
Biological Process thiamine transmembrane transportISS:BHF-UCL
Biological Process thiamine transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process thiamine-containing compound metabolic processTAS:Reactome
Biological Process transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Membrane
Involvement in disease
Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2):
An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.
Topology
Cytoplasmic: 1-7
Helical: 8-28
Extracellular: 29-53
Helical: 54-74
Cytoplasmic: 75-81
Helical: 82-102
Extracellular: 103-110
Helical: 111-131
Cytoplasmic: 132-144
Helical: 145-165
Extracellular: 166-169
Helical: 170-190
Cytoplasmic: 191-282
Helical: 283-303
Extracellular: 304-316
Helical: 317-337
Cytoplasmic: 338-342
Helical: 343-363
Extracellular: 364-375
Helical: 376-396
Cytoplasmic: 397-405
Helical: 406-426
Extracellular: 427-434
Helical: 435-455
Cytoplasmic: 456-496
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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