nucleotide metabolism
Types
nucleotide biogenesis
nucleotide metabolism
Nucleotide biogenesis
Anomalies of nucleotide metabolism (Examples)
Mutations in PRPS1 in CMTX5 (X-linked Charcot-Marie-Tooth disease)
- PRPS1 encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis (17701900)
See also
purine metabolism
pyrimidine metabolism
References
Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. PMID: 17701900
