Rat Slc19a3 cDNA Clone(NM_001108228.1)

Name: Rat Slc19a3 cDNA Clone(NM_001108228.1)
SKU: CDFR007869
Availability: InStock

For research use only. Not intended for any clinical use.

Cat. No. : CDFR007869

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Product Information

Gene Information

Cat. No.	CDFR007869
Description	NativeORF clone of Rattus norvegicus solute carrier family 19, member 3 (Slc19a3) as transfection-ready DNA NM_001108228.1
Product Type	cDAN Clone
Gene Abbr	Slc19a3
Species	Rat
Vector	pCMV6Entry

Target Gene

SLC19A3

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 cognitive disability, 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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