SLC2A1 solute carrier family 2 member 1
Gene ID: 6513, updated on 11-Apr-2024Gene type: protein coding
Also known as: CSE; PED; DYT9; GLUT; DYT17; DYT18; EIG12; GLUT1; HTLVR; GLUT-1; SDCHCN; GLUT1DS
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC2A1
- Go to Variation Viewer for SLC2A1 variants
Summary
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Childhood onset GLUT1 deficiency syndrome 2 | See labs |
| Dystonia 9 | See labs |
| Encephalopathy due to GLUT1 deficiency | See labs |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | See labs |
| Hereditary cryohydrocytosis with reduced stomatin | See labs |
| Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2016-03-24) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2016-03-24) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1p34.2
- Sequence:
- Chromosome: 1; NC_000001.11 (42925353..42958868, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC2A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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