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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 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
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.

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

external link
2.

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

external link
3.

Boll M et al. (2002) Functional characterization of two novel mammalian electrogenic proton-dependent amino acid cotransporters.

external link
4.

Boll M et al. (2003) A cluster of proton/amino acid transporter genes in the human and mouse genomes.

external link
5.

Bermingham JR et al. (2004) Organization and expression of the SLC36 cluster of amino acid transporter genes.

external link
6.

NCBI article

NCBI 206358 external link
7.

OMIM.ORG article

Omim 606561 external link
8.

Wikipedia article

Wikipedia EN (SLC36A1) external link
Update: Aug. 14, 2020
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