GPI Chromosome 19
Glucose-6-phosphate isomerase
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What This Gene Does
This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Associated Conditions (9)
Hemolytic anemia due to glucophosphate isomerase deficiency
Inborn genetic diseases
GPI-related disorder
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Hereditary spherocytosis
Thyroid cancer
nonmedullary
1
Key Variants
RS137853584
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS139853344
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS143733383
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, GPI-related disorder
Health Risk
RS143827313
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS149348999
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases
Health Risk
RS191051353
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS199742342
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Ovarian serous cystadenocarcinoma
Health Risk
RS369778460
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS373311425
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS61754634
Conflicting classifications of pathogenicity
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
RS774225651
Conflicting classifications of pathogenicity
Health Risk
RS2145419704
Likely pathogenic
Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137853584 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS139853344 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS143733383 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases, GPI-related disorder |
| RS143827313 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS149348999 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Inborn genetic diseases |
| RS191051353 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS199742342 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hemolytic anemia due to glucophosphate isomerase deficiency, Ovarian serous cystadenocarcinoma |
| RS369778460 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS373311425 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS61754634 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS774225651 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2145419704 | Health Risk | Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS2145429665 | Health Risk | Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS2513787109 | Health Risk | Likely pathogenic | Hereditary spherocytosis, Hereditary spherocytosis |
| RS2513825652 | Health Risk | Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS2513880015 | Health Risk | Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS34306618 | Health Risk | Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS752119540 | Health Risk | Likely pathogenic | GPI-related disorder, GPI-related disorder |
| RS771983073 | Health Risk | Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS1250029517 | Health Risk | Pathogenic | — |
| RS1364382189 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS137853585 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS137853586 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS137853587 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS148811525 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS2074944872 | Health Risk | Pathogenic | — |
| RS2074944986 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS267606851 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Thyroid cancer, nonmedullary |
| RS267606852 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS267606853 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS757341382 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS769026153 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS781245249 | Health Risk | Pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS1238884216 | Health Risk | Pathogenic/Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS137853583 | Health Risk | Pathogenic/Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS758132799 | Health Risk | Pathogenic/Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |
| RS774419705 | Health Risk | Pathogenic/Likely pathogenic | Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency |