Gene Symbol | RPIA |
Entrez Gene ID | 22934 |
Full Name | ribose 5-phosphate isomerase A |
Synonyms | RPI,RPIAD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Ribose 5-phosphate isomerase deficiency, 608611 (3) |