SLC19A3 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	The immunogen is a synthetic peptide directed towards the C terminal region of human SLC19A3
Specificity	Expected reactivity: Human
Formulation	Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Concentration	lot specific
Purification	Affinity purified
Conjugation	Unconjugated
Storage Condition	For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.
Predicted Protein Size	55 kDa
Gene Name	solute carrier family 19 member 3
Database Link	NP_079519.1 Entrez Gene 80704 Human UniProt ID Q9BZV2
Background	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.
Synonyms	OTTHUMP00000204103; ThTr-2; THTR2
Reference Data
Protein Families	Transmembrane

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