Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Large neutral amino acids transporter small subunit 2

The SLC7A8 gene encodes a subunit amino acid transporter for neutral 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.

Wirth EK et. al. (2009) Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.

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2.

Deloukas P et. al. (1998) A physical map of 30,000 human genes.

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3.

Borsani G et al. (1999) SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

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4.

Pineda M et. al. (1999) Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids.

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Update: Sept. 26, 2018