Aliases for CMAS Gene
External Ids for CMAS Gene
Previous GeneCards Identifiers for CMAS Gene
This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for CMAS Gene
CMAS (Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase) is a Protein Coding gene. Diseases associated with CMAS include Coffin-Siris Syndrome and Flying Phobia. Among its related pathways are Transport to the Golgi and subsequent modification and Amino sugar and nucleotide sugar metabolism. GO annotations related to this gene include N-acylneuraminate cytidylyltransferase activity.
UniProtKB/Swiss-Prot for CMAS Gene
Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).