SLC19A3 antibody (C-Term)

Catalog No. ABIN5516361

Product Details anti-SLC19A3 Antibody

Target: SLC19A3 (Slc19a3) (Solute Carrier Family 19, Member 3 (Slc19a3))

Binding Specificity: C-Term

Reactivity: Human

Host: Rabbit

Clonality: Polyclonal

Conjugate: This SLC19A3 antibody is un-conjugated

Application: Western Blotting (WB)

Sequence: VYGSYFAVIA GIFLMRSMYI TYSTKSQKDV QSPAPSENPD VSHPEEESNI

Purification: Affinity purified

Immunogen: The immunogen is a synthetic peptide directed towards the C terminal region of human SLC19A3

Application Details

Application Notes: Optimal working dilution should be determined by the investigator.

Restrictions: For Research Use only

Handling

Format: Liquid

Buffer: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09 % (w/v) sodium azide and 2 % sucrose.

Preservative: Sodium azide

Precaution of Use: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Storage: -20 °C

Storage Comment: 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.

Target Details for SLC19A3

Target: SLC19A3 (Slc19a3) (Solute Carrier Family 19, Member 3 (Slc19a3))

Alternative Name: SLC19A3 (Slc19a3 Products)

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

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.

Alias Symbols: BBGD, THMD2, THTR2

Protein Size: 496

Gene ID: 80704

NCBI Accession: NM_025243, NP_079519

UniProt: Q9BZV2

Pathways: Dicarboxylic Acid Transport