rs149974794
This variant is located in the SLC37A4 gene.
▶ClinVar annotation
Glucose-6-phosphate transport defect; not specified; not provided; Phosphate transport defect;Glucose-6-phosphate transport defect;Congenital disorder of glycosylation, type IIw; Glycogen storage disease type 1 due to SLC37A4 mutation; Inborn genetic diseases
View on ClinVar →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]
View all SLC37A4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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