Summary

Gene Name	SLC19A3
Specie	Homo sapiens
Full Name	solute carrier family 19 member 3
Also known as	BBGD|THMD2|THTR2|hTHTR2|thTr-2
Coordinate	chr2:227683763-227718030
Strand	-
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.[provided by RefSeq, Jan 2010]

Retrocopy(s) from SLC19A3

Retroname	Coord	Strand	Genomic Region	ENSG
SLC19A3P1	chr7:55245004-55245233	+	Intergenic	ENSG00000237210	UCSC

Expression

Transcript Sequences

>NM_001371414.1

TTGTTGTTATTAACACAGTCGTTctctgttgcccaggttggggtgcagtggcatgatctccactcactgcaacctccatctcccgggttcaagtgattctcctgcctcagccacccaagtagctgggattacaggcacccaccaccgcaaccgactaatttttgcgttattagtagagatggggtttcactctgttggccaggctagtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagcgctgggattacaagcatgagccactacacccagccTTTTAAAATTTTTAATCTACCGTTTACACAGTGTTCTTGTACCTTTTTAAAAAGTGATAGAGCTTATAATAATGGGTGAAGATGACTGCTACAGGAGTAACTTTTAAAAGGACTATCTTGTGATTTGGAACACACAGAAAATGAAGGGGAAAGGTAAACATCTGGCTTTCACAGCCATGGATTGTTACAGAACTTCACTAAGCAGTTCCTGGATTTACCCCACTGTGATCCTCTGCTTATTTGGTTTTTTCTCCATGATGAGACCCTCAGAACCATTCCTTATCCCATATTTATCTGGACCAGATAAAAACCTGACCAGTGCAGAGGTTGAAGCATGCCACAATTAAGACAACAAAGGACAGATGCAGGGTCAGAAGCAACTCAATGAATCCACTGGGTTCTGCTTCTCGAGCCACTGTGGACCAGTTAACAGACCTTCCCTCCAAGGAGCAGCTCAGTTGTGTGGTCTTTGCTCTGTGGCCTCCTGCTTTCTCCAGCAACCTCAGTGATCCAGGTGTCAAGATAACAAATGAGATCTTCCCCGTTTGGACATACTCCTACCTGGTGCTGCTGCTGCCTGTGTTTGTCCTCACCGATTATGTCCGCTACAAGCCAGTCATCATCTTGCAAGGTATCAGTTTCATCATTACCTGGCTGCTGCTGTTGTTTGGCCAAGGAGTGAAGACCATGCAGGTTGTAGAGTTCTTCTATGGGATGGTCACCGCCGCCGAGGTGGCCTACTACGCCTACATATACAGCGTGGTCAGCCCCGAGCACTACCAGAGAGTGAGCGGCTACTGCAGGAGCGTCACGCTGGCCGCCTACACAGCAGGGTCGGTGCTGGCTCAACTCTTGGTATCCCTGGCGAACATGTCGTACTTTTACCTCAACGTCATATCCTTGGCCTCTGTCTCCGTGGCTTTCCTTTTCTCACTTTTCCTACCAATGCCCAAGAAAAGCATGTTTTTTCATGCAAAACCCAGCAGAGAAATAAAGAAGTCATCAAGCGTGAATCCAGTATTAGAGGAAACTCACGAAGGTGAAGCACCAGGCTGTGAAGAGCAGAAACCCACATCAGAAATACTCAGCACTTCAGGGAAGCTGAATAAGGGCCAGCTGAACAGCCTGAAACCAAGCAATGTGACTGTGGACGTTTTTGTGCAGTGGTTCCAAGATTTGAAGGAGTGCTACTCCTCAAAACGTCTTTTCTACTGGTCTCTATGGTGGGCTTTCGCCACAGCAGGTTTTAACCAGGTTTTGAACTATGTTCAAATCCTGTGGGATTACAAGGCGCCATCCCAAGATTCTTCCATCTATAATGGGGCCGTAGAAGCTATTGCAACCTTTGGAGGGGCTGTGGCTGCCTTTGCAGTGGGTTATGTGAAAGTCAACTGGGACCTTCTGGGAGAGCTGGCTCTGGTGGTCTTCTCAGTTGTCAATGCCGGTTCTTTATTTCTCATGCATTACACAGCCAATATCTGGGCGTGCTATGCTGGCTATTTGATATTCAAGTCCAGCTATATGCTTCTTATAACCATAGCAGTATTTCAGATTGCAGTTAATCTGAATGTGGAACGCTATGCCTTGGTATTTGGAATCAACACCTTTATTGCCTTGGTGATTCAGACCATCATGACTGTGATTGTAGTAGATCAGAGAGGGCTCAACTTGCCAGTCAGCATTCAGTTTTTAGTTTATGGGAGCTATTTTGCAGTAATTGCTGGAATTTTCCTAATGAGAAGCATGTATATTACCTACTCAACCAAATCCCAGAAGGATGTACAGAGCCCTGCTCCAAGTGAGAATCCAGATGTGTCTCACCCAGAGGAAGAGAGTAATATCATCATGTCAACAAAACTCTAACCTCATCGCAACAAACGCAACAGTGGCTTTCAAAGTTATGCAATAATAAGGAAAGATTTTGAGATGGGTGGCATATGTTTTGCCATAACTTGACATGCTTTGCAAATCTGGATTCCAATGGACCTTTCAAAACCACAACAAAACCTCAGTTTTAGATGAGTTCTCTATGTGACCAATTTTACTGGATGCAATTGACAGGACCCGTCATCATAATTAAACAACCCATATTGGGGACCCCCTGTGACTAGTAGCAGCTGGAAAATTCTGGTTTTTATCACTTGTAAAGACATGCAGATGGCGTGGAACCAAACCATGAGAAAACTCCAGCCATCCTGGAGTTGATATTCACCATTTGTGAGGAGAAATACTAACTGGACTGACCCTATTGCTAGGCTTAAATACTTATTTGATCTTACCAAAGAAGTCAACACATGGGACCTTTGTGTCACATGAACCATTTTCTTTCCTCTTCTATTAAGTGTATTTCTGTTTAAGTTACAGTTCTCTAAGAGAATTACAATGTTTGTCCCATTTCTAAGGGCTTCTCTTCAACTCTAATAACAGCATTATTCACGttatgatttgatagtattattatttaatttttttatgattattTTCCATTTTGTGCTCTGAGTTTTGCTGTTGAAAGTCTCCCTCAAGAATAGCTTCAGATCCTCTTGTGTATTTGCAGAATACACAAGGTCATTTCCCAGTGGCCTGGGAGAGGCAGTGAGCCTTCTCTCCACCACCATAGACAGGTGTTAATGCATCTATGggccaggtgcagtggctcactcctgtaatccgagcaatttgggaggccaaggtgggagttttgcttgaggccagaggttcaagaccagcctgggcaacacagtgacacctgactctactaaaaaattaaaaaattagctgggcagcgtggtgtgtgcctgtagtctcagctacttgggaggccatggtgggaggatgggttgagcacaggagtcagaggctacagtgagctatgattgcaccattgcactccagcctgggcaacagagtaagactctCATCCCCCTCCTCCCAAAAAAGAGCACCTGTGTGGTGTCTGTCTAAAATAGGAAAACTTAAAGGAGGTTTCTAGAAGTATTAGAAATAAGAAAACACTGATGGGGGGAGTGGAATAAAACACCTGAttttgttttgttttggtttttgagacagtctcgctctctcacccaggctggaatgcaatggcgtgatcttggctcactgcaaacttcacctcctgagttcaagccattctcctacctcagcctcccaagtagctgggactatgggtgcacaccaccacgcctggctaatttttgtatttttagtggagatggggtttcacaatgttggccaggctggtctcaaactcctgacttcaggtgatctgtctgcctcggcctcccaaagagctgagattacaggcgtgagccaccatgcctggccAAAACACCTGATTTTTAAATGGTAGCAATTGTGCTAAATAAAATGTGTAAAAATTTTAAAGAGTTGTTAACATTTTTTGATGAATTCTGCTGAAAATTATCTGAACATACCTGTTTTTCGAAACTTCAAGAAACTTCAATAAGGGATGCATTGAGCAGTCTGACAGTGAGAATAAAGAATGCTGAGTCAAGATTTATATTAAggctggaagctgtggctcacacctgtaatcccagcattttgggaggctgaagtgagaggttaatttgagggtaggggtatgagaccatcttggccaatatagcaagaccctgtgtctaaaacaaacaaaaaaaTTTTTAATTGGATTTtgatatggtttggatctgtgtccccaccaaatctcacgttgaagtgtaatccccaatgttagaggtggggccggctgggaggcgactggatcatgggtgtgaagccttcatgaatggtttggcaccgtcccctcagtgctggtctcatgacagtgagttatcgtgagatctggtagtttaaaagtgtgtagcacctccccactctctctttctcctgctttggccacgtgaagatgcctgctcccactttgccttctgccatgagtaaaaattccccgaggactccctagaagcagatgttgccacgcttcctatatagcctgtgagctaattaaaccccttttcttacaaactatctagtctcaggtgtttctttatagcaatgtgataatggactaataTGTTTCTCAAGTATACTCCTCTCCAAATCCCGAAATTCTTCACTGGACTAAGATCCAGCCCAAGAATCAATGCACTCACTTAGTGGAGAAAACTAATAACATTCCTACTTACATTAAAGGCAAGGAAGGAATGGCCGCTATTCTTTTTCTTCTTCttctttttttttttttttttttttttttgatagaatcttgctctgtcacccaggctggagtgcaatgacgcaatgtcagctcactgcaacctccgcctcccgggttcaagcaattctcctgcctcagcctcccgagtagctgggattacaggcgtgcaccaccatgcccggctgatttttgtatatttagtagagacggggtttcaccatgttggtcaggctggtttcaaactcctggtctcaggtgatccgcccgtctcggtctcccaaagtgttgggattacaggcttcagccaccTCACACCCAGTCTATTATCCTTCTTTTTTAACTTATTATTCTGGAGGCATTAGGCATCACAATTAGACAAACAAGAAAAATCAGAGGTCAGAAATTGGAAAGGAggccaggtgcagtggctcacgcctgtaatcccaacactttgggaggctgaggcggtcagatcacatgaggccaggaattggaggcaagcctgggcaacatgatgaaaccctgtatgtactaaaaacaacaaaattagccgggtgtggtccatgcctgtaatcccagccactcggtggctgaagcataagagtcacttaaacccaggaggcagaggttgcagtgagttgagattgtgccactgcactccagcctgagcgacagagtgagacccAAAGTGGATTAAAAAATGCATTATGATTCCTTCACATATTCACCTATAACAAAATTAACTGCTaaaaaatgaggaagatctttagtgacacagaactctaagagctctactatcaagtggaaaaaagtcaagcaccaaaataataatgaacgcagcaactcagcatttgtataaaaaggacaaaaatatctgtattggcttatatatgcgtataacttttctaaaaagacaAATGAggcctggcacggtggctcatgcctgtaatcctggcactttgggaggctgaggtaggtggattgcttgagttcaggagttcaaaaccagcctaggcaacatggcaaaaccctgtctctacaaaaaatacaaaaattagctgggcatggtggcttgcacctggactcccagctacttgaggggatgagaagggaggatcgcttgagcccaggaggtggaggttgcagtgagctgagatcatgccactgcactccagccctgatgacagagtgagaccctgtcttgaacaaacaaaCCaacaatcaaacaaataaataaacaaCTGAAACTCATACCAA