TALDO1 Chromosome 11
Transaldolase 1
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What This Gene Does
Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
Inborn genetic diseases
TALDO1-related disorder
Deficiency of transaldolase
Key Variants
RS138232181
Conflicting classifications of pathogenicity
Inborn genetic diseases, TALDO1-related disorder, Inborn genetic diseases
Health Risk
RS141640651
Conflicting classifications of pathogenicity
TALDO1-related disorder, Inborn genetic diseases, TALDO1-related disorder
Health Risk
RS146282855
Conflicting classifications of pathogenicity
Deficiency of transaldolase, Inborn genetic diseases, TALDO1-related disorder
Health Risk
RS147961544
Conflicting classifications of pathogenicity
Deficiency of transaldolase, Inborn genetic diseases, TALDO1-related disorder
Health Risk
RS150420496
Conflicting classifications of pathogenicity
Deficiency of transaldolase, Deficiency of transaldolase
Health Risk
RS181385165
Conflicting classifications of pathogenicity
Deficiency of transaldolase, TALDO1-related disorder, Deficiency of transaldolase
Health Risk
RS201855399
Conflicting classifications of pathogenicity
Health Risk
RS373077928
Conflicting classifications of pathogenicity
Deficiency of transaldolase, Deficiency of transaldolase
Health Risk
RS532763032
Conflicting classifications of pathogenicity
Deficiency of transaldolase, Deficiency of transaldolase
Health Risk
RS762014857
Conflicting classifications of pathogenicity
Deficiency of transaldolase, Deficiency of transaldolase
Health Risk
RS1057524714
Likely pathogenic
Health Risk
RS1279835702
Likely pathogenic
Deficiency of transaldolase, Deficiency of transaldolase
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138232181 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TALDO1-related disorder, Inborn genetic diseases |
| RS141640651 | Health Risk | Conflicting classifications of pathogenicity | TALDO1-related disorder, Inborn genetic diseases, TALDO1-related disorder |
| RS146282855 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of transaldolase, Inborn genetic diseases, TALDO1-related disorder |
| RS147961544 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of transaldolase, Inborn genetic diseases, TALDO1-related disorder |
| RS150420496 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of transaldolase, Deficiency of transaldolase |
| RS181385165 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of transaldolase, TALDO1-related disorder, Deficiency of transaldolase |
| RS201855399 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373077928 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of transaldolase, Deficiency of transaldolase |
| RS532763032 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of transaldolase, Deficiency of transaldolase |
| RS762014857 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of transaldolase, Deficiency of transaldolase |
| RS1057524714 | Health Risk | Likely pathogenic | — |
| RS1279835702 | Health Risk | Likely pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS1590072094 | Health Risk | Likely pathogenic | — |
| RS376108629 | Health Risk | Likely pathogenic | — |
| RS752085688 | Health Risk | Likely pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS753787975 | Health Risk | Likely pathogenic | Deficiency of transaldolase, TALDO1-related disorder, Deficiency of transaldolase |
| RS879038670 | Health Risk | Likely pathogenic | — |
| RS1182889391 | Health Risk | Pathogenic | TALDO1-related disorder, Deficiency of transaldolase, TALDO1-related disorder |
| RS1259081430 | Health Risk | Pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS137853085 | Health Risk | Pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS1448870204 | Health Risk | Pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS201836196 | Health Risk | Pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS727502867 | Health Risk | Pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS751425603 | Health Risk | Pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS797045110 | Health Risk | Pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |
| RS151052416 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of transaldolase, Deficiency of transaldolase |