SLC38A8 solute carrier family 38 member 8
Gene ID: 146167, updated on 11-Apr-2024Gene type: protein coding
Also known as: FVH2; FHASD; SNAT8
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC38A8
- Go to Variation Viewer for SLC38A8 variants
Summary
This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association between liver-specific gene polymorphisms and their expression levels with nonalcoholic fatty liver disease. GeneReviews: Not available | |
| Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | See labs |
Genomic context
- Location:
- 16q23.3
- Sequence:
- Chromosome: 16; NC_000016.10 (84009667..84043372, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC38A8 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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