SLC38A8 gene

solute carrier family 38 member 8

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Putative sodium-dependent amino acid/proton antiporter.

From NCBI Gene:

  • Foveal hypoplasia 2

From UniProt:

Foveal hypoplasia 2 (FVH2): An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients. [MIM:609218]

Cytogenetic Location: 16q23.3, which is the long (q) arm of chromosome 16 at position 23.3

Molecular Location: base pairs 84,009,667 to 84,043,372 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q23.3, which is the long (q) arm of chromosome 16 at position 23.3