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
- (1)
N° du produit
ABIN3106401
Quantité
1 mg
Fiche technique
Fiche technique
Reactivity
Mouse
Source
Tobacco (Nicotiana tabacum)
Validations
- (1)
N° du produit
ABIN3128162
Quantité
1 mg
Fiche technique
Fiche technique
Dernières publications sur nos produits SLC19A3
: "Integrative Analysis Revealing Human Adipose-Specific Genes and Consolidating Obesity Loci." dans: Scientific reports, Vol. 9, Issue 1, pp. 3087, (2019) (PubMed).: "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, ThTr2Protein 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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