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SLC2A1

From SNPedia
is agene
is mentioned by
Full namesolute carrier family 2 (facilitated glucose transporter), member 1
Other namesGLUT GLUT1
EntrezGene6513
PheGenI6513
VariationViewer6513
ClinVarSLC2A1
GeneCardsSLC2A1
dbSNP6513
DiseasesSLC2A1
SADR6513
HugeNav6513
wikipediaSLC2A1
googleSLC2A1
gopubmedSLC2A1
EVSSLC2A1
HEFalMpSLC2A1
MyGene2SLC2A1
23andMeSLC2A1
UniProtP11166
EnsemblENSG00000117394
OMIM138140
# SNPs104
 Max MagnitudeChromosome positionSummary
rs1057517822042,930,724
rs1057518821042,930,671
rs1057518953042,930,742
rs1057520545042,930,649
rs1057521066042,929,616
rs1057521632042,927,735
rs1057521967042,929,954
rs1064795152042,929,307
rs1064795363042,929,729
rs1085308009042,930,029
rs121909738042,929,694
rs121909739042,929,242
rs121909740042,929,637
rs1385129042,943,295
rs139722450042,927,627
rs148800393042,927,667
rs200247956042,929,655
rs202060209042,931,047
rs2229682042,929,964
rs2297977042,949,617
rs267607059942,927,118
rs267607060042,930,858
rs267607061042,930,865
rs3768043042,953,683
rs387907312042,929,918
rs387907313042,929,766
rs587784390042,943,240
rs587784391042,927,794
rs587784393042,943,312
rs587784396042,929,712
rs587784397042,929,613
rs749426767042,929,215
rs752143706042,927,147
rs75485205342,927,224
rs771386274042,929,868
rs776095655042,927,684
rs794727642042,930,684
rs794727870042,929,244
rs794729221042,929,736
rs796053247042,929,921
rs796053248042,929,885
rs796053249042,929,753
rs796053250042,929,715
rs796053251042,929,612
rs796053253042,929,211
rs796053254042,929,210
rs796053255042,929,024
rs796053262042,927,726
rs796053263042,927,685
rs796053264042,927,611
... 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.