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SLC19A3 Produits

(Solute Carrier Family 19, Member 3 (Slc19a3))

Catégories

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 mental retardation, 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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Catégories SLC19A3 en vedette

SLC19A3 Anticorps

High quality antibodies with extensive validation data.

SLC19A3 Protéines

Proteins for various applications incl. WB, ELISA, IF etc.

SLC19A3 recommandé Anticorps

Produit
Reactivity
Application
Validations
N° du produit
Quantité
Fiche technique
Reactivity Cow, Dog, Guinea Pig, Horse, Human, Mouse, Rabbit, Rat
Application WB
Validations
  • (5)
N° du produit ABIN2775519
Quantité 100 μL
Fiche technique Fiche technique
Reactivity Human
Application WB, ELISA, IF
Validations
  • (2)
N° du produit ABIN7171984
Quantité 100 μg
Fiche technique Fiche technique
Reactivity Human
Application WB
Validations
  • (1)
N° du produit ABIN651538
Quantité 400 μL
Fiche technique Fiche technique

SLC19A3 recommandé Kits ELISA

Produit
Reactivity
Analytical Method
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
N° du produit ABIN6225767
Quantité 96 tests
Fiche technique Fiche technique

SLC19A3 recommandé Protéines

Produit
Reactivity
Source
Validations
N° du produit
Quantité
Fiche technique
Reactivity Human
Source Wheat germ
Validations
  • (1)
N° du produit ABIN1320167
Quantité 10 μg
Fiche technique Fiche technique
Reactivity Human
Source Tobacco (Nicotiana tabacum)
Validations
N° du produit ABIN3106401
Quantité 1 mg
Fiche technique Fiche technique
Reactivity Mouse
Source Tobacco (Nicotiana tabacum)
Validations
N° du produit ABIN3128162
Quantité 1 mg
Fiche technique Fiche technique

Dernières publications sur nos produits SLC19A3

Ahn, Wu, Lee: "Integrative Analysis Revealing Human Adipose-Specific Genes and Consolidating Obesity Loci." dans: Scientific reports, Vol. 9, Issue 1, pp. 3087, (2019) (PubMed).

Schänzer, Döring, Ondrouschek, Goos, Garvalov, Geyer, Acker, Neubauer, Hahn: "Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease." dans: Brain pathology (Zurich, Switzerland), Vol. 24, Issue 3, pp. 270-9, (2014) (PubMed).

Synonymes et noms alternatifs relatifs à SLC19A3

solute carrier family 19 member 3 (SLC19A3), solute carrier family 19 member 3 (Slc19a3), solute carrier family 19 member 3 L homeolog (slc19a3.L), solute carrier family 19 (thiamine transporter), member 3 (slc19a3), thiamine transporter 2 (LOC486151), solute carrier family 19 (thiamine transporter), member 3b (slc19a3b), solute carrier family 19, member 3 (SLC19A3), thiamine transporter 2-like (LOC100230080), solute carrier family 19, member 3 (Slc19a3), A230084E24Rik, AI788884, BBGD, MGC52872, MGC89434, si:dkey-223n17.4, slc19a3, THMD2, THTR2, thtr2, ThTr2

Protein level used designations for SLC19A3

  • solute carrier family 19, member 3
  • thTr-2
  • thiamine transporter 2
  • solute carrier family 19 (sodium/hydrogen exchanger), member 3
  • thiamine transporter 2-like
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