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SLC19A3 Produkte

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

Kategorien

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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Ausgewählte SLC19A3 Kategorien

SLC19A3 Antikörper

High quality antibodies with extensive validation data.

SLC19A3 Proteine

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

Empfohlene SLC19A3 Antikörper

Produkt
Reaktivität
Applikation
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Cow, Dog, Guinea Pig, Horse, Human, Mouse, Rabbit, Rat
Applikation WB
Validierungen
  • (5)
Kat. Nr. ABIN2775519
Menge 100 μL
Datenblatt Datenblatt
Reaktivität Human
Applikation WB, ELISA, IF
Validierungen
  • (2)
Kat. Nr. ABIN7171984
Menge 100 μg
Datenblatt Datenblatt
Reaktivität Human
Applikation WB
Validierungen
  • (1)
Kat. Nr. ABIN651538
Menge 400 μL
Datenblatt Datenblatt

Empfohlene SLC19A3 ELISA Kits

Produkt
Reaktivität
Analytical Method
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human
Analytical Method Quantitative Sandwich ELISA
Validierungen
Kat. Nr. ABIN6225767
Menge 96 tests
Datenblatt Datenblatt

Empfohlene SLC19A3 Proteine

Produkt
Reaktivität
Source
Validierungen
Kat. Nr.
Menge
Datenblatt
Reaktivität Human
Source Wheat germ
Validierungen
  • (1)
Kat. Nr. ABIN1320167
Menge 10 μg
Datenblatt Datenblatt
Reaktivität Human
Source Tobacco (Nicotiana tabacum)
Validierungen
Kat. Nr. ABIN3106401
Menge 1 mg
Datenblatt Datenblatt
Reaktivität Mouse
Source Tobacco (Nicotiana tabacum)
Validierungen
Kat. Nr. ABIN3128162
Menge 1 mg
Datenblatt Datenblatt

Neueste Publikationen zu unseren SLC19A3 Produkten

Ahn, Wu, Lee: "Integrative Analysis Revealing Human Adipose-Specific Genes and Consolidating Obesity Loci." in: 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." in: Brain pathology (Zurich, Switzerland), Vol. 24, Issue 3, pp. 270-9, (2014) (PubMed).

Synonyme und alternative Namen zu 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

Bezeichner auf Proteinebene für 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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