| ncRNA Symbol: | PRPS1 |
| Full Name: | phosphoribosyl pyrophosphate synthetase 1 |
| Category: | mRNA |
| Synonyms: | ARTS|CMTX5|DFN2|DFNX1|PPRibP|PRS-I|PRSI |
| Chromosome: | chrX |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 107628424 | End Site(bp): | 107651026 | |
| Gene Summary: | This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] |
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