Aliases for SLC38A8 Gene
External Ids for SLC38A8 Gene
Previous GeneCards Identifiers for SLC38A8 Gene
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]
GeneCards Summary for SLC38A8 Gene
SLC38A8 (Solute Carrier Family 38, Member 8) is a Protein Coding gene. Diseases associated with SLC38A8 include foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome and foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis. GO annotations related to this gene include amino acid transmembrane transporter activity. An important paralog of this gene is SLC38A7.
UniProtKB/Swiss-Prot for SLC38A8 Gene
Putative sodium-dependent amino acid/proton antiporter.