Gene: SLC38A8

Alternate names for this Gene: FVH2

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.3

Description of this Gene: solute carrier family 38 member 8

Type of Gene: protein-coding

rs372929441 in SLC38A8 gene and FOVEAL HYPOPLASIA 2 PMID 24290379 2013 Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

PMID 24045842 2014 Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

rs12928842 in SLC38A8 gene and Schizophrenia PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.