SLC2A1

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
google	SLC2A1
gopubmed	SLC2A1
EVS	SLC2A1
HEFalMp	SLC2A1
MyGene2	SLC2A1
23andMe	SLC2A1
UniProt	P11166
Ensembl	ENSG00000117394
OMIM	138140
# SNPs	104

	Max Magnitude	Chromosome position
rs1057517822	0	42,930,724
rs1057518821	0	42,930,671
rs1057518953	0	42,930,742
rs1057520545	0	42,930,649
rs1057521066	0	42,929,616
rs1057521632	0	42,927,735
rs1057521967	0	42,929,954
rs1064795152	0	42,929,307
rs1064795363	0	42,929,729
rs1085308009	0	42,930,029
rs121909738	0	42,929,694
rs121909739	0	42,929,242
rs121909740	0	42,929,637
rs1385129	0	42,943,295
rs139722450	0	42,927,627
rs148800393	0	42,927,667
rs200247956	0	42,929,655
rs202060209	0	42,931,047
rs2229682	0	42,929,964
rs2297977	0	42,949,617
rs267607059	9	42,927,118
rs267607060	0	42,930,858
rs267607061	0	42,930,865
rs3768043	0	42,953,683
rs387907312	0	42,929,918
rs387907313	0	42,929,766
rs587784390	0	42,943,240
rs587784391	0	42,927,794
rs587784393	0	42,943,312
rs587784396	0	42,929,712
rs587784397	0	42,929,613
rs749426767	0	42,929,215
rs752143706	0	42,927,147
rs75485205	3	42,927,224
rs771386274	0	42,929,868
rs776095655	0	42,927,684
rs794727642	0	42,930,684
rs794727870	0	42,929,244
rs794729221	0	42,929,736
rs796053247	0	42,929,921
rs796053248	0	42,929,885
rs796053249	0	42,929,753
rs796053250	0	42,929,715
rs796053251	0	42,929,612
rs796053253	0	42,929,211
rs796053254	0	42,929,210
rs796053255	0	42,929,024
rs796053262	0	42,927,726
rs796053263	0	42,927,685
rs796053264	0	42,927,611
... further results

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.