A family of acidic sugars found in all vertebrates. Frequently located at the outer end of glycoconjugates on cell surfaces or on secreted glycoconjugates.
One of the major types of sialic acids is N-acetylneuraminic acid (Neu5Ac, NANA) which is the biosynthetic precursor for most of the other sialic acids. The addition of a single oxygen atom gives rise to a very common variation, N-glycolylneuraminic acid (Neu5Gc, NGNA).
This irreversible conversion is catalyzed by a specific hydroxylase, the CMP-sialic acid hydroxylase (or CMP-Neu5Ac (NANA) hydroxylase) that converts CMP-Neu5Ac (CMP-NANA) to CMP-Neu5Gc (CMP-NGNA). These sugar nucleotides (CMP-) are the high energy donors necessary for the addition of sialic acid to glycoconjugates in the Golgi apparatus.
Humans Homo sapiens do not express Neu5Gc (NGNA) . This difference is caused by an exon deletion / frameshift mutation in the human gene coding the CMP-sialic acid (Neu5Ac, NANA) hydroxylase, resulting in a highly translated protein that appears to have no hydroxylase activity [2-3].
|||Brinkman-Van der Linden EC et al., J. Biol. Chem., 275, 8633-8640 (2000). PMID: 10722703|
|||Irie A. et al., J. Biol. Chem., 273, 15866-15871 (1998). PMID: 9624188|
|||Chou HH. et al., PNAS 96, 11751-11756 (1998). PMID: 9751737|
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