Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > nucleotide biosynthesis
nucleotide biosynthesis
Monday 15 October 2007
Anomalies of nucleotide biogenesis (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
nucleotide metabolism
- nucleotide biogenesis
- nucleotide degradation
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