SLC2A7

Chr 1

solute carrier family 2 member 7

Also known as: GLUT-7, GLUT7, hGLUT7

NCBI Gene: 155184 ENSG00000197241 UniProt: Q6PXP3

The protein functions as a sugar transporter that facilitates glucose and fructose transport across cell membranes through facilitated diffusion. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with seizures and severe developmental delays. This gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.67

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)