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. This disorder is inherited in an autosomal recessive fashion.