Also known as BBGD, THMD2, THTR2, solute carrier family 19 member 3, thTr-2
gen de la especie Homo sapiens
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].
via MyGene.info
En biología, el transportador de tiamina tipo 2 (hTHTR2) es una proteína transmembrana que está codificada en el gen SLC19A3 situado en el brazo largo del cromosoma 2 humano. Esta proteína tiene la función de captar la tiamina extracelular y hacer posible que entre en la célula y una vez dentro pueda ser empleada en las funciones en las que es imprescindible. El transportador htHTR2 se encuentra situado sobre todo en las membranas de las células del cerebro y el sistema nervioso central.
Abstract from DBpedia / Wikipedia · CC BY-SA
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).