PhenoModifier-Gene Detail

Gene "SLC7A5"

Found 1 record

Gene information

Gene symbol:

SLC7A5

See related:

Ensembl: ENSG00000103257, Gene ID: 8140

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

1

Disorder:

1

Vriant:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered brain toxicity of hyperphenylalaninaemia(1)

Detail：

Variant 1:

SLC7A5:rs148183733

Gene:

SLC7A5

Genomic location:

dbSNP ID:

rs148183733

Target disease:

Phenylketonuria(Orphanet_716)

Effect type:

Expressivity

Modifier effect:

Altered brain toxicity of hyperphenylalaninaemia

Evidence:

Assessment of genotype–phenotype associations and gene activity study

Effect:

mutations of the SLC7A5 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients.

Reference:

PMID16972176

Title:

LAT1 gene variants--potential factors influencing the clinical course of phenylketonuria.

Species studied:

Human

Abstract:

The LAT1 amino acid exchanger is responsible for phenylalanine transport across the blood-brain barrier. As phenylalanine excess in the brain leads to mental retardation in untreated patients with phenylketonuria, mutations of the LAT1 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients. The aim of this study was to screen for LAT1 gene mutations in phenylketonuric patients. Within the coding sequence of the gene, three polymorphism and one new mutation (G41D) were detected. The protein sequence change due to the mutation described could influence the clinical course of phenylketonuria.