Neutral amino acid transporter A
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.[5][6][7] In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.[8]
External IDsOMIM: 600229; MGI: 2135601; HomoloGene: 20655; GeneCards: SLC1A4; OMA:SLC1A4 - orthologs
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 (SPATCCM). This disorder is inherited in an autosomal recessive fashion.