Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Proton-coupled amino acid transporter 1

The SLC36A1 gene encodes a proton-dependent amino acid transporter for small amino acids which is present in the kidney, but whose clinical impact has yet to be determined.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Aminoaciduria
Cystinuria
SLC3A1
SLC7A9
Dicarboxylic aminoaciduria
SLC1A1
Erythrocyte lactate transporter defect
SLC16A1
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Hartnup disorder
SLC6A19
Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

Sagné C et. al. (2001) Identification and characterization of a lysosomal transporter for small neutral amino acids.

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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.

Heublein S et. al. (2010) Proton-assisted amino-acid transporters are conserved regulators of proliferation and amino-acid-dependent mTORC1 activation.

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Update: Sept. 26, 2018