Gene: SLC19A3

Alternate names for this Gene: BBGD|THMD2|THTR2|thTr-2

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q36.3

Description of this Gene: solute carrier family 19 member 3

Type of Gene: protein-coding

rs121917882 in SLC19A3 gene and Basal ganglia disease, biotin-responsive PMID 15871139 2005 Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 26863430 2016 Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

PMID 24957181 2014 Thiamine transporter-2 deficiency: outcome and treatment monitoring.

PMID 26657515 2016 Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

PMID 20065143 2010 Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

PMID 23482991 2013 Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

PMID 27896110 2014 Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.

PMID 28832562 2017 A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

rs145999922 in SLC19A3 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs145999922 in SLC19A3 gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs145999922 in SLC19A3 gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.