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Rabbit Anti-GLUT1/FITC Conjugated antibody
background:
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 is at Cell membrane; multi-pass membrane protein. 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.
Similarity:
Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Database links:
Entrez Gene: 6513 Human
Entrez Gene: 20525 Mouse
Entrez Gene: 24778 Rat
Omim: 138140 Human
SwissProt: P11166 Human
SwissProt: P3569 Mouse
SwissProt: P11167 Rat
Unigene: 473721 Human
Unigene: 721551 Human
Unigene: 21002 Mouse
Unigene: 645 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
GLUT-1属于溶质运载蛋白家族成员（solute carrier family），主要功能是转载葡萄糖进入上皮细胞。
目前主要用于糖尿病肾病和视网膜病变的研究，也是肾小球系膜细胞上的主要葡萄糖转运体。GLUT1的功能状态直接影响系膜细胞的糖代谢及功能变化。
近期，研究人员也用来区别一些良、恶性肿瘤的鉴别。
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