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, res ...

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 b ...

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callosum, and progressive microcephaly Spastic can refer to: * Spasticity, a feature of altered muscle performance * A historical reference to people with the movement disorders, see cerebral palsy * Spastic (word), a pejorative used against disabled people See also * Scope (charity) ...

( 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 fact ...

Function

Pathology

Interactions

See also

References

Further reading