SLC1A4

Description

The SLC1A4 (solute carrier family 1 member 4) is a protein-coding gene located on chromosome 2.

SLC1A4, the gene responsible for the protein Neutral amino acid transporter A, plays a significant role in the transport of various amino acids within the human body. This transporter is primarily active in the brain, lungs, skeletal muscles, intestines, and kidneys. Its primary function is to facilitate the movement of L-serine, D-serine, L-alanine, L-cysteine, and L-threonine across cell membranes. Mutations in SLC1A4 can lead to a rare genetic disorder called spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM), which is inherited in an autosomal recessive manner. In melanocytic cells, the expression of SLC1A4 is potentially regulated by the MITF gene. SLC1A4 belongs to the solute carrier family, a group of proteins involved in the transport of various molecules across cell membranes.

SLC1A4, also known as Alanine/serine/cysteine/threonine transporter 1, is a sodium-dependent transporter that facilitates the movement of alanine, serine, cysteine, proline, hydroxyproline, and threonine across cell membranes. This transport activity is supported by various studies, including those published in PubMed with IDs 14502423, 26041762, 8101838, and 8340364.

SLC1A4 is also known as ASCT1, SATT, SPATCCM.

Associated Diseases

• Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome