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Center for Nephrology and Metabolic Disorders
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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 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.

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.

external link
2.

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

external link
3.

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

external link
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.

external link
5.

NCBI article

NCBI 23428 external link
6.

OMIM.ORG article

Omim 604235 external link
7.

Wikipedia article

Wikipedia EN (SLC7A8) external link
Update: Aug. 14, 2020
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