proton-coupled amino acid transporter 2
The SLC36A2 gene encodes a proton-coupled amino acid transporter of neutral amino acids. Mutations are responsible for autosomal recessive iminoglycinuria and dominant hyperglycinuria.
Genetests:
Related Diseases:
References:
1. |
Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
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2. |
Boll M et al. (2002) Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters.
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3. |
Boll M et al. (2003) A cluster of proton/amino acid transporter genes in the human and mouse genomes.
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4. |
Bermingham JR et al. (2004) Organization and expression of the SLC36 cluster of amino acid transporter genes.
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5. |
NCBI article
NCBI 153201
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6. |
OMIM.ORG article
Omim 608331
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7. |
Orphanet article
Orphanet ID 173500
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8. |
Wikipedia article
Wikipedia EN (SLC36A2)
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Update: Aug. 14, 2020