RPIA Chromosome 2
Ribose 5-phosphate isomerase A
Upload your DNA to see your personal genotypes for variants in RPIA.
What This Gene Does
The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]
Associated Conditions (2)
Deficiency of ribose-5-phosphate isomerase
Inborn genetic diseases
Key Variants
RS368582524
Conflicting classifications of pathogenicity
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS559380161
Conflicting classifications of pathogenicity
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS777127840
Conflicting classifications of pathogenicity
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS780586313
Conflicting classifications of pathogenicity
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS1399404493
Likely pathogenic
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS1558699183
Likely pathogenic
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS2104137690
Likely pathogenic
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS768204663
Likely pathogenic
Health Risk
RS121918591
Pathogenic
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS1422698928
Pathogenic
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS1673318855
Pathogenic
Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
Health Risk
RS2528407432
Pathogenic
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS368582524 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS559380161 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS777127840 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS780586313 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS1399404493 | Health Risk | Likely pathogenic | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS1558699183 | Health Risk | Likely pathogenic | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS2104137690 | Health Risk | Likely pathogenic | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS768204663 | Health Risk | Likely pathogenic | — |
| RS121918591 | Health Risk | Pathogenic | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS1422698928 | Health Risk | Pathogenic | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS1673318855 | Health Risk | Pathogenic | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS2528407432 | Health Risk | Pathogenic | — |
| RS730880316 | Health Risk | Pathogenic | Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase |
| RS760452079 | Health Risk | Pathogenic | Deficiency of ribose-5-phosphate isomerase, Inborn genetic diseases, Deficiency of ribose-5-phosphate isomerase |