Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sodium-glucose transporter 1

The gene encodes a hight-affinity sodium glucose transporter found in kidneys and intestinal. Loss of function mutations result in an autosomal recessive disorder characterized by malabsorption of glucose and galactose.

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 25 days
Specimen type genomic DNA

Related Diseases:

Glucose-Galactose Malabsorption
SLC5A1

References:

1.

Turk E et al. (1994) Structure of the human Na+/glucose cotransporter gene SGLT1.

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2.

Martín MG et al. (1996) Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.

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3.

Turk E et al. (1997) Membrane topology motifs in the SGLT cotransporter family.

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4.

Orphanet article

Orphanet ID 119693 [^]
5.

NCBI article

NCBI 6523 [^]
6.

OMIM.ORG article

Omim 182380 [^]
7.

Wikipedia article

Wikipedia EN (SLC5A1) [^]
Update: April 29, 2019