The SLC2A1 (solute carrier family 2 member 1) gene is 35kb in length and is mapped to human chromosome 1p35 ? p31.3. The gene contains 10 exons and nine introns. Its mRNA is found to be expressed in several tissues. It is highly expressed in cerebral endothelial cells and the encoded protein has 12 transmembrane domains.
Synonyms: Anti-DYT18; Anti-GLUT; Anti-GLUT1; Anti-HTLVR
Storage: -20C
Application: Anti-SLC2A1 antibody produced in rabbit has been used in immunohistochemistry.
Biochem Physiol Actions: The SLC2A1 (solute carrier family 2 member 1) gene, also referred to as GLUT1, encodes protein that is mainly involved in the transport of D-glucose across the blood-brain barrier. Mutation in this gene causes Glut-1 deficiency syndrome, which is characterized by reduced cerebrospinal fluid glucose concentrations (hypoglycorrhachia) and reduced erythrocyte glucose transporter activities in the patients along with infantile seizures, acquired microcephaly and developmental delay. It has been found to be critical in the development of the blood-brain barrier. Mutation in this gene has also been associated with paroxysmal exercise-induced dyskinesia and epilepsy.
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