Neutral amino acid transporter A

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene. In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.

Function

The transporter is responsible for transport of L-serine, D-serine, L-alanine, L-cysteine, and L-threonine.

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.

Interactions

In melanocytic cells SLC1A4 gene expression may be regulated by MITF.