SLC1A4 solute carrier family 1 member 4
Gene ID: 6509, updated on 5-Mar-2024Gene type: protein coding
Also known as: SATT; ASCT1; SPATCCM
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC1A4
- Go to Variation Viewer for SLC1A4 variants
Summary
The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available | |
| Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | See labs |
Genomic context
- Location:
- 2p14
- Sequence:
- Chromosome: 2; NC_000002.12 (64988479..65023865)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC1A4 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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