Neutral amino acid transporter A
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.[1][2][3] In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.[4]
Function
[edit | edit source]The transporter is responsible for transport of L-serine, D-serine, L-alanine, L-cysteine, and L-threonine.
Pathology
[edit | edit source]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.
Interactions
[edit | edit source]In melanocytic cells SLC1A4 gene expression may be regulated by MITF.[5]
See also
[edit | edit source]References
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Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.