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 1 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. Gene Ontology (GO) annotations related to this gene include N-acylneuraminate cytidylyltransferase activity.
UniProtKB/Swiss-Prot Summary 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).