Neutral amino acid transporter A is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''SLC1A4''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
The transporter is responsible for transport of L-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.
Interactions
In melanocytic cells SLC1A4 gene expression may be regulated by
MITF
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene.
MITF is a basic helix-loop-helix leucine zipper transcription factor ...
.
See also
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Glutamate transporter
Glutamate transporters are a family of neurotransmitter transporter proteins that move glutamate – the principal excitatory neurotransmitter – across a membrane. The family of glutamate transporters is composed of two primary subclasses: the ex ...
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Solute carrier family
References
Further reading
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Solute carrier family
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