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Magic™ Membrane Protein Human SLC19A3 (Solute carrier family 19 member 3) Full Length (CAT#: MPC0759K) Made to Order

Datasheet
This product is a 55.6 kDa Human SLC19A3 membrane protein expressed in HEK293. The protein is for research use only and is not approved for use in humans or in clinical diagnosis.

Product Specifications

  • Host Species
  • Human
  • Target Protein
  • SLC19A3
  • Protein Length
  • Full length
  • Protein Class
  • Transporter
  • Molecular Weight
  • 55.6 kDa
  • TMD
  • 12
  • Sequence
  • MDCYRTSLSSSWIYPTVILCLFGFFSMMRPSEPFLIPYLSGPDKNLTSAE
    ITNEIFPVWTYSYLVLLLPVFVLTDYVRYKPVIILQGISFIITWLLLLFG
    QGVKTMQVVEFFYGMVTAAEVAYYAYIYSVVSPEHYQRVSGYCRSVTLAA
    YTAGSVLAQLLVSLANMSYFYLNVISLASVSVAFLFSLFLPMPKKSMFFH
    AKPSREIKKSSSVNPVLEETHEGEAPGCEEQKPTSEILSTSGKLNKGQLN
    SLKPSNVTVDVFVQWFQDLKECYSSKRLFYWSLWWAFATAGFNQVLNYVQ
    ILWDYKAPSQDSSIYNGAVEAIATFGGAVAAFAVGYVKVNWDLLGELALV
    VFSVVNAGSLFLMHYTANIWACYAGYLIFKSSYMLLITIAVFQIAVNLNV
    ERYALVFGINTFIALVIQTIMTVIVVDQRGLNLPVSIQFLVYGSYFAVIA
    GIFLMRSMYITYSTKSQKDVQSPAPSENPDVSHPEEESNIIMSTKL

Product Description

  • Expression Systems
  • HEK293
  • Tag
  • Flag-StrepII or based on specific requirements
  • Protein Format
  • Detergent or based on specific requirements

Target

  • Target Protein
  • SLC19A3
  • 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.
  • Alternative Names
  • BBGD; THMD2; THTR2; thTr-2; thiamine transporter 2; solute carrier family 19 (thiamine transporter), member 3; SLC19A3; Solute carrier family 19 member 3

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