Aliases for CMAHP Gene
- Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase, Pseudogene 2 3 5
- Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMP-N-Acetylneuraminate Monooxygenase)(Pseudogene) 2 3
- CMAH 3 4
- Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase Pseudogene 4
- Inactive Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase 4
- CMP-N-Acetylneuraminic Acid Hydroxylase 3
External Ids for CMAHP Gene
Previous HGNC Symbols for CMAHP Gene
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]
GeneCards Summary for CMAHP Gene
CMAHP (Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase, Pseudogene) is a Pseudogene. Diseases associated with CMAHP include Charge Syndrome. Gene Ontology (GO) annotations related to this gene include 2 iron, 2 sulfur cluster binding and CMP-N-acetylneuraminate monooxygenase activity.
UniProtKB/Swiss-Prot Summary for CMAHP Gene
Sialic acids are components of carbohydrate chains of glycoconjugates and are involved in cell-cell recognition and cell-pathogen interactions. That protein has no CMP-N-acetylneuraminate monooxygenase activity and is not able to convert CMP-N-acetylneuraminic acid (CMP-Neu5Ac) into its hydroxylated derivative CMP-N-glycolylneuraminic acid (CMP-Neu5Gc), a sialic acid abundantly expressed at the surface of many cells in vertebrates (PubMed:9624188). However, it may play a role in Wnt signaling (PubMed:19890979).