SLC19A3 anticorps (C-Term)

N° du produit ABIN5516361

Détail du produit anti-SLC19A3 anticorps

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

Épitope: C-Term

Reactivité: Humain

Hôte: Lapin

Clonalité: Polyclonal

Conjugué: Cet anticorp SLC19A3 est non-conjugé

Application: Western Blotting (WB)

Séquence: VYGSYFAVIA GIFLMRSMYI TYSTKSQKDV QSPAPSENPD VSHPEEESNI

Purification: Affinity purified

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

Information d'application

Indications d'application: Optimal working dilution should be determined by the investigator.

Restrictions: For Research Use only

Stockage

Format: Liquid

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

Agent conservateur: Sodium azide

Précaution d'utilisation: This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.

Stock: -20 °C

Stockage commentaire: 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.

Détails sur SLC19A3

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

Autre désignation: SLC19A3 (Slc19a3 Produits)

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

Sujet: 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

ID gène: 80704

NCBI Accession: NM_025243, NP_079519

UniProt: Q9BZV2

Pathways: Dicarboxylic Acid Transport