SLC2A1

Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). 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 (PubMed:10227690). In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity). Required for mesendoderm differentiation (By similarity).

GLUT1 deficiency syndrome 1

GLUT1DS1

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 intellectual disability.

None

The disease is caused by variants affecting the gene represented in this entry.

GLUT1 deficiency syndrome 2

GLUT1DS2

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 intellectual disability may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia.

None

The disease is caused by variants affecting the gene represented in this entry.

Epilepsy, idiopathic generalized 12

EIG12

A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Dystonia 9

DYT9

An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia.

None

The disease is caused by variants affecting the gene represented in this entry.

Stomatin-deficient cryohydrocytosis with neurologic defects

SDCHCN

A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, intellectual disability, and movement disorder.

None

The disease is caused by variants affecting the gene represented in this entry.

Carbohydrate degradation.

Phosphorylation at Ser-226 by PKC promotes glucose uptake by increasing cell membrane localization.

Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.

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

• Cell membrane
• Multi-pass membrane protein
• Melanosome
• Photoreceptor inner segment
• Localizes primarily at the cell surface (PubMed:18245775, PubMed:19449892, PubMed:23219802, PubMed:24847886, PubMed:25982116). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).

GLUT1, SLC2A1, HepG2 glucose transporter, GLUT-1

• entrezGene:6513
• omim:138140
• swissprot:P11166

Proteins

Immunology & Infectious Disease

54084Da