SLC1A4
Function
Sodium-dependent neutral amino-acid transporter that mediates transport of alanine, serine, cysteine, proline, hydroxyproline and threonine.
Involvement in disease
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
SPATCCM
A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A4 subfamily.
Tissue Specificity
Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined.
Cellular localization
- Membrane
- Multi-pass membrane protein
- Melanosome
- Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Alternative names
ASCT1, SATT, SLC1A4, Neutral amino acid transporter A, Alanine/serine/cysteine/threonine transporter 1, Solute carrier family 1 member 4, ASCT-1