SLC7A7 solute carrier family 7 member 7
Gene ID: 9056, updated on 11-Apr-2024Gene type: protein coding
Also known as: LPI; LAT3; MOP-2; Y+LAT1; y+LAT-1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC7A7
- Go to Variation Viewer for SLC7A7 variants
Summary
The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Lysinuric protein intolerance | See labs |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (22773222..22819791, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC7A7 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
- SLC7A7 @ LOVD
- Variation ViewerRelated Variants
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