Cytidine Monophospho-n-acetylneuraminic Acid Hydroxylase, Pseudogene; Cmahp
Description
N-glycolylneuraminic acid (NeuGc), a sialic acid involved in cell-cell recognition and cell-pathogen interactions, is abundantly expressed in most mammals but is not detectable in humans. The expression of NeuGc is controlled by cytidine monophospho-N-acetylneuraminic acid (CMP-NeuAc) hydroxylase activity, which in humans is inactivated by a deletion in the CMAHP pseudogene that renders the enzyme nonfunctional (summary by Irie et al., 1998).
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Cytidine Monophospho-n-acetylneuraminic Acid Hydroxylase, Pseudogene; Cmahp Is also known as cmah, cmp-sialic acid hydroxylase, csah, cmp-neu5ac hydroxylase, cmp-neuac hydroxylase.
Researches and researchers
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