Neutral amino acid transporter A

Neutral amino acid transporter A is a protein that in humans is encoded by the "SLC1A4" gene.
In melanocytic cells SLC1A4 gene expression may be regulated by MITF.
Pathology.
Mutations of the gene cause a disease called spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM). This disorder is inherited in an autosomal recessive fashion.