Alt. symbols: G6PT1 | G6PT2 | G6PT3 | GSD1b | GSD1c | GSD1d

Approved name: solute carrier family 37 member 4
Alt. names: glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1, solute carrier family 37 (glucose-6-phosphate transporter), member 4

Location: 11q23.3: 119023751 - 119030906 (-)
Gene type: protein_coding, 27 transcripts.

Scores: LoFtool: | pLI: 0.00067473 | LOEUF: 0.878

HGNC: 4061

NCBI: 2542, RefSeq: NG_013331.1

Ensembl: ENSG00000137700.19

LRG_187 | Status: public

OMIM: 602671

Expression | ProteinAtlas

The SLC37A4 gene encodes a protein called glucose 6-phosphate translocase. This protein transports the sugar molecule glucose 6-phosphate from the cytoplasm into the endoplasmic reticulum (ER). At the membrane of the ER, the glucose 6-phosphate translocase works together with the glucose 6-phosphatase protein (encoded by 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.

At least 80 distinct mutations in the SLC37A4 gene have been found to cause glycogen storage disease (GSD). SLC37A4 mutations disrupt the normal functioning of glucose 6-phosphate translocase and prevent the transport of glucose 6-phosphate to the endoplasmic reticulum (ER). If glucose 6-phosphate cannot get to the ER, it cannot get broken down and glucose is not produced. The excess of glucose 6-phosphate is converted to fat and glycogen, however, 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 GSD. For reasons that are unclear, mutations in SLC37A4 also cause a shortage of neutrophils in individuals with GSD. [Load More]