Genomic coordinate (human 11:119,024,112 SLC37A4) Cytoband (human 11q23.3 SLC37A4).
Here I present: “Glucose 6-Phosphate Transporter”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SLC37A4) icd10=E74.0
Glucose 6-Phosphate Transporter (G6PT1) regulates the rate-limiting step of glucose-6-phosphate transport through the endoplasmic reticulum membrane. It also functions in ATP-mediated calcium sequestration in the ER lumen and as a G6P receptor/sensor.
The ICD-10 code E74.0 refers to Glycogen storage disease. This is a non-specific, parent category for a group of inherited metabolic disorders where the body is unable to properly store or break down glycogen (the stored form of sugar) due to a missing enzyme. This leads to abnormal accumulation of glycogen in tissues like the liver and muscles.
SLC37A4 on 11q23.3 is the transporter half of the glucose-6-phosphatase system.
SLC37A4 / G6PT = one transporter, multiple clinical faces.
Its core biochemical lesion is failure of ER import of glucose-6-phosphate, but the phenotype can present as:
1. Hepatic-metabolic disease.
2. Renal disease.
3. Neutropenia / immune dysfunction.
4. Glycosylation disorder.
That is why it is better described as a pleiotropic spectrum than as a single disease name.
