Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Amino acid transporter responsible for LPI

With this gene mutated, lysinuric protein intolerance occurs. The gene codes for an amino acid transporter.

Gene Structure

The gene SLC7A7, formerly known as y(+)LAT1, is located on chromosome 14 (14q11.2), spans about 46kb, and consists of 10 exons, 9 of which are translated.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Lysinuric protein intolerance
SLC7A7

References:

1.

Palacín M et al. (2004) Lysinuric protein intolerance: mechanisms of pathophysiology.

external link
2.

Sperandeo MP et al. (2005) Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

external link
3.

Esposito V et al. (2006) Growth hormone deficiency in a patient with lysinuric protein intolerance.

external link
4.

Tanner L et al. (2006) Hazards associated with pregnancies and deliveries in lysinuric protein intolerance.

external link
5.

NCBI article

NCBI 9056 external link
6.

OMIM.ORG article

Omim 603593 external link
7.

Orphanet article

Orphanet ID 119709 external link
8.

Wikipedia article

Wikipedia EN (SLC7A7) external link
Update: Aug. 14, 2020
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