品牌： bioss

品名： ANTI-GLUT1

规格： bs-0472R-100ul

产品描述：

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. Mutations in this gene have been found

in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Jul 2008]. Function: Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad

substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. Subcellular Location: Cell membrane; Multi-pass membrane protein. Melanosome. Note=Localizes primarily at the cell surface. Identified by mass

spectrometry in melanosome fractions from stage I to stage IV. Tissue Specificity: Expressed at variable levels in many human tissues. Post-translational modifications: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in SLC2A1 are the cause of GLUT1 deficiency syndrome type 1 (GLUT1DS1) [MIM:606777]; also known as blood-brain

barrier glucose transport defect. A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype

comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor

incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye

movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy,

sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to

severe mental retardation. Defects in SLC2A1 are the cause of GLUT1 deficiency syndrome type 2 (GLUT1DS2) [MIM:612126]. A clinically variable disorder

characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient

abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the

exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation

may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be

associated with macrocytic hemolytic anemia.