rs782255299

This variant is located in the SLC37A4 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

Glucose-6-phosphate transport defect; Glucose-6-phosphate transport defect;Congenital disorder of glycosylation, type IIw;Phosphate transport defect; Inborn genetic diseases

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About SLC37A4

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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