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:
Related Diseases:
References:
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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
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5. |
NCBI article
NCBI 6523
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6. |
OMIM.ORG article
Omim 182380
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7. |
Wikipedia article
Wikipedia EN (SLC5A1)
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Update: Aug. 14, 2020