SLC2A1 Recombinant Monoclonal Antibody

Uniprot Id

P11166

Target Species

Human

Target Name

SLC2A1

Target Full Name

Solute carrier family 2, facilitated glucose transporter member 1

Target Function

Facilitative glucose transporter, which is 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. Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain. In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors.

Target Involvement

GLUT1 deficiency syndrome 1 (GLUT1DS1); GLUT1 deficiency syndrome 2 (GLUT1DS2); Epilepsy, idiopathic generalized 12 (EIG12); Dystonia 9 (DYT9); Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Melanosome. Photoreceptor inner segment.

Target Protein Families

Major facilitator superfamily, Sugar transporter (TC 2.A.1.1) family, Glucose transporter subfamily

Target Tissue Specificity

Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues.

Target Research Area

Metabolism

Target Synonyms

Choreoathetosis/spasticity episodic (paroxysmal choreoathetosis/spasticity); CSE; DYT17; DYT18; DYT9; EIG12; erythrocyte/brain; Erythrocyte/hepatoma glucose transporter; facilitated glucose transporter member 1; Glucose transporter 1; Glucose transporter type 1; Glucose transporter type 1, erythrocyte/brain; GLUT ; GLUT-1; GLUT1; GLUT1DS; GLUTB; GT1; GTG1; Gtg3; GTR1_HUMAN; HepG2 glucose transporter; HTLVR; Human T cell leukemia virus (I and II) receptor; MGC141895; MGC141896; PED; RATGTG1; Receptor for HTLV 1 and HTLV 2; SLC2A1; Solute carrier family 2 (facilitated glucose transporter), member 1; Solute carrier family 2; Solute carrier family 2, facilitated glucose transporter member 1

Target Background

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia.