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The official name of this gene is “solute carrier family 37 (glucose-6-phosphate transporter), member 4.”
SLC37A4 is the gene's official symbol. The SLC37A4 gene is also known by other names, listed below.
The SLC37A4 gene provides instructions for making a protein called glucose 6-phosphate translocase. This protein transports the sugar molecule glucose 6-phosphate from the fluid inside the cell (cytoplasm) to the endoplasmic reticulum, which is a structure inside cells that is involved in protein processing and transport. At the membrane of the endoplasmic reticulum, glucose 6-phosphate translocase works together with the glucose 6-phosphatase protein (produced from the G6PC gene) to break down glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body.
The SLC37A4 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
More than 80 mutations in the SLC37A4 gene have been found to cause glycogen storage disease type Ib (GSDIb). Most of these mutations change single protein building blocks (amino acids) in glucose 6-phosphate translocase. SLC37A4 gene mutations disrupt the normal functioning of glucose 6-phosphate translocase and prevent the transport of glucose 6-phosphate to the endoplasmic reticulum. If glucose 6-phosphate cannot get to the endoplasmic reticulum, it cannot get broken down and glucose is not produced. Glucose 6-phosphate that is not broken down to glucose is converted to fat and glycogen, a complex sugar that is stored within cells. Too much fat and glycogen stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDIb. For reasons that are unclear, mutations in the SLC37A4 gene also cause a shortage of white blood cells (neutropenia) in people with GSDIb.
Cytogenetic Location: 11q23.3
Molecular Location on chromosome 11: base pairs 119,024,350 to 119,030,905
The SLC37A4 gene is located on the long (q) arm of chromosome 11 at position 23.3.
More precisely, the SLC37A4 gene is located from base pair 119,024,350 to base pair 119,030,905 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SLC37A4 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; breakdown ; carrier ; cell ; cytoplasm ; endoplasmic reticulum ; gene ; gluconeogenesis ; glucose ; glycogen ; molecule ; neutropenia ; phosphatase ; phosphate ; protein ; simple sugar ; solute ; toxic ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.