SLC19A3 产品
(Solute Carrier Family 19, Member 3 (Slc19a3))
Categories
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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Featured SLC19A3 Categories
SLC19A3 抗体
High quality antibodies with extensive validation data.
SLC19A3 蛋白
Proteins for various applications incl. WB, ELISA, IF etc.
Recommended SLC19A3 抗体
Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Cow, Dog, Guinea Pig, Horse, Human, Mouse, Rabbit, Rat
Application
WB
Validations
- (5)
Cat. No.
ABIN2775519
Quantity
100 μL
Datasheet
Datasheet
Reactivity
Human
Application
WB, ELISA, IF
Validations
- (2)
Cat. No.
ABIN7171984
Quantity
100 μg
Datasheet
Datasheet
Reactivity
Human
Application
ELISA
Validations
- (1)
Cat. No.
ABIN529294
Quantity
100 μg
Datasheet
Datasheet
Recommended SLC19A3 ELISA试剂盒
Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Analytical Method
Quantitative Sandwich ELISA
Validations
Cat. No.
ABIN6225767
Quantity
96 tests
Datasheet
Datasheet
Recommended SLC19A3 蛋白
Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Source
Wheat germ
Validations
- (1)
Cat. No.
ABIN1320167
Quantity
10 μg
Datasheet
Datasheet
Reactivity
Human
Source
Tobacco (Nicotiana tabacum)
Validations
Cat. No.
ABIN3106401
Quantity
1 mg
Datasheet
Datasheet
Reactivity
Mouse
Source
Tobacco (Nicotiana tabacum)
Validations
Cat. No.
ABIN3128162
Quantity
1 mg
Datasheet
Datasheet
Latest Publications for our SLC19A3 Products
: "Integrative Analysis Revealing Human Adipose-Specific Genes and Consolidating Obesity Loci." in: Scientific reports, Vol. 9, Issue 1, pp. 3087, (2019) (PubMed).: "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).
Synonyms and alternative names related to 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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