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MGP006015

UniProt Annotations

Entry Information
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 10
Protein EntryGTR10_HUMAN
UniProt IDO95528
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=0.28 mM for 2-deoxy-D-glucose;
DiseaseArterial tortuosity syndrome (ATS) [MIM:208050]: An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. {ECO:0000269|PubMed:16550171, ECO:0000269|PubMed:17935213}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFacilitative glucose transporter.
SimilarityBelongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. {ECO:0000305}.
Subcellular LocationEndomembrane system {ECO:0000269|PubMed:16550171}; Multi-pass membrane protein {ECO:0000269|PubMed:16550171}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:16550171}.
Tissue SpecificityWidely expressed; highest levels in liver and pancreas. {ECO:0000269|PubMed:11592815}.
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