Abstract
Three closely related genes encoding amino acid transport proteins are clustered on 5q32 in humans, and Chromosome (Chr) 11 in mice. The human SLC36A1 gene, which encodes the lysosomal amino acid transporter LYAAT1/PAT1, generates multiple alternative mRNAs, some of which encode truncated proteins. SLC36A1 is expressed in numerous tissues, whereas expression of SLC36A2, which encodes the glycine transporter tramdorinl/PAT2, is most abundant in kidney and muscle. Expression of a third gene, SLC36A3, is restricted to testis. Mouse Slc36a2 also is expressed in bone and fat tissue. Polymorphisms in human SLC36A2 exclude it as a candidate locus for a peripheral neuropathy that has been mapped to 5q31-33. SLC36A2 is a candidate gene for 5q-myelodysplastic syndrome, on the basis of its chromosomal location and its expression in bone.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Amino Acid Transport Systems / genetics*
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Amino Acid Transport Systems, Neutral / genetics*
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Animals
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Base Sequence
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Blotting, Northern
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Carrier Proteins / genetics*
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DNA Primers
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DNA, Complementary / genetics
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Databases, Genetic
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Expressed Sequence Tags
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Gene Components
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Gene Expression*
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Humans
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In Situ Hybridization
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Membrane Proteins / genetics*
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Mice / genetics*
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Molecular Sequence Data
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Polymorphism, Single Nucleotide
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Sequence Alignment
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Sequence Analysis, DNA
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Symporters*
Substances
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Amino Acid Transport Systems
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Amino Acid Transport Systems, Neutral
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Carrier Proteins
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DNA Primers
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DNA, Complementary
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Membrane Proteins
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SLC36A1 protein, human
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SLC36A2 protein, human
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Slc36a1 protein, mouse
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Slc36a2 protein, mouse
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Slc36a3 protein, human
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Symporters