SLC2A1
From SNPedia
is a | gene |
is | mentioned by |
Full name | solute carrier family 2 (facilitated glucose transporter), member 1 |
Other names | GLUT GLUT1 |
EntrezGene | 6513 |
PheGenI | 6513 |
VariationViewer | 6513 |
ClinVar | SLC2A1 |
GeneCards | SLC2A1 |
dbSNP | 6513 |
Diseases | SLC2A1 |
SADR | 6513 |
HugeNav | 6513 |
wikipedia | SLC2A1 |
SLC2A1 | |
gopubmed | SLC2A1 |
EVS | SLC2A1 |
HEFalMp | SLC2A1 |
MyGene2 | SLC2A1 |
23andMe | SLC2A1 |
UniProt | P11166 |
Ensembl | ENSG00000117394 |
OMIM | 138140 |
# SNPs | 104 |
The SLC2A1 gene, located on chromosome 1, encodes the solute carrier family 2, facilitated glucose transporter member 1 protein, better known as glucose transporter 1 (or GLUT1).
SLC2A1 mutations reduce or eliminate the function of the GLUT1 protein. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function, leading to forms of GLUT1 deficiency syndrome.GHR
Note that an estimated 90% of the SLC2A1 mutations leading to GLUT1 deficiency syndrome are believed to be de novo, i.e. new mutations not inherited from either parent.