Biology:Neutral amino acid transporter A

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.[1][2][3]

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.[4]

See also

References

  1. "Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15". Genomics 24 (1): 20–6. Apr 1995. doi:10.1006/geno.1994.1577. PMID 7896285. 
  2. "ASCT-1 is a neutral amino acid exchanger with chloride channel activity". J Biol Chem 271 (45): 27991–4. Dec 1996. doi:10.1074/jbc.271.45.27991. PMID 8910405. 
  3. "Entrez Gene: SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6509. 
  4. "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.