Thiamin transporter
WebThe thiamine transporter type 2 deficiency (hTHTR2) is a inborn error of thiamine metabolismcaused by mutations in the SLC19A3geneencoding it. Patients with this … WebThe thiamine transporter type 2 deficiency (hTHTR2) is a inborn error of thiamine metabolismcaused by mutations in the SLC19A3geneencoding it. Patients with this defect develop recurrent episodes of encephalopathy accompanied by other neurological manifestations. WHAT IS THIAMINE AND HOW IS IT METABOLIZED?
Thiamin transporter
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WebThiamine transporter. Members of this protein family have been assigned as thiamine transporters by a phylogenomic analysis of families of genes regulated by the THI … WebIn vitro and in vivo characterization of the minimal promoter region of the human thiamin transporter SLC19A2. Am J Physiol Cell Physiol. 2003 Sep;285(3):C633-41. 7. Reidling JC, Said HM. Adaptive Regulation of Intestinal Thiamin Uptake: Molecular Mechanism using Wild-type & Transgenic Mice carrying hTHTR-1 & 2 Promoters. Am J Physiol GI 2004 ...
Web9 Jan 2024 · For thiamine to enter the mitochondria, a transporter is needed. Thiamine gets into the mitochondria via a mitochondrial transporter encoded by the SLC25A19 gene. In … The thiamine transporter protein encoded by SLC19A2 has a 40% shared amino acid identity with the folate transporter SLC19A1. The N-terminal domain and the sequence between the C-terminal domain and sixth transmembrane domain are required for proper localization of this protein to the cell membrane. See more Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene. SLC19A2 is a thiamine transporter See more The SLC19A2 gene is located on the q arm of chromosome 1 in position 24.2 and spans 22,062 base pairs. The gene produces a 55.4 kDa protein composed of 497 See more Mutations in the SLC19A2 gene can cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive … See more • GeneReviews/NIH/NCBI/UW entry on Thiamine-Responsive Megaloblastic Anemia or Rogers Syndrome • See more The encoded protein is a high-affinity transporter specific to the intake of thiamine. Thiamine transport is not inhibited by other organic cations nor affected by See more This protein interacts with CERS2. See more • Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M (September 2000). "A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I" See more
Web16 Apr 2015 · BBGD is an autosomal-recessive disease arising from a mutation of the SLC19A3 gene encoding the human thiamine transporter 2 protein, and usually manifests as subacute to acute encephalopathy.... Web11 Apr 2024 · Thiamine metabolism and action may also be affected by inborn errors of thiamine transporters, which have become recognized to a greater extent over recent years . Diabetes in SLC19A2 defects, peripheral neuropathy and encephalopathy in SLC19A3, SLC25A19, and TPK1 genetic defects, megaloblastic anemia, and deafness are the five …
Web30 Oct 2007 · An additional cause of thiamine responsive disorder in the pediatric population is defect in the SLC19A3 gene, which causes thiamine transporter-2 deficiency (150; 204). These disorders present with acute or recurrent encephalopathy in children and have collectively been referred to as biotin-thiamine-responsive basal ganglia disease.
WebThe thiamin transporter 1 (SLC19A2) is expressed in brain, but its exact location and role remains to be elucidated. Materno-fetal transfer: Transport across the placental membrane is known ( Dutta el al., 1999) to involve both the thiamin transporter 1 (SLC19A2) and ThTr2 (SLC19A3; Rajgopal et al., 2001 ), but is not yet completely characterized. mcmaster family historyWeb24 Jan 2001 · Thiamine transporter 1 Short names ThTr-1; ThTr1 Alternative names Solute carrier family 19 member 2 Thiamine carrier 1 ( TC1) Gene names Name SLC19A2 … liege therapieWebThiamine-responsive megaloblastic anemia (TRMA), also called Rogers’ syndrome, is a very rare syndrome characterized by early onset diabetes mellitus, anemia, and sensorineural … mcmaster field hockeymcmaster fall previewWeb11 Dec 2024 · SLC19A2 and SLC19A3, also known as thiamine transporters (THTR) 1 and 2, respectively, transport the positively charged thiamine (vitamin B1) into cells to enable its … mcmasterfamilypractice.caWebAlanine-serine-cysteine transporter-1 (ASC-1) and thiamine transporter 2 (ThTr2) for further investigation. ASC-1 mediates the transport of alanine, serine, cysteine, and glycine in a sodium independent manner. In the presence of ASC-1 selective inhibitor, the uptake of these amino acids during thermogenic stimulation was dampened in both types ... liege todayWebMutations in THTR-1 cause thiamin-responsive megaloblastic anemia, a tissue-specific disease associated with diabetes mellitus, megaloblastic anemia, and sensorineural … liege to brussels airport