Aliases for NPL Gene
External Ids for NPL Gene
Previous HGNC Symbols for NPL Gene
Previous GeneCards Identifiers for NPL Gene
This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
GeneCards Summary for NPL Gene
NPL (N-Acetylneuraminate Pyruvate Lyase) is a Protein Coding gene. Diseases associated with NPL include Type 1 Diabetes Mellitus 6 and Hereditary Lymphedema I. Among its related pathways are Metabolism of proteins and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include lyase activity and N-acetylneuraminate lyase activity. An important paralog of this gene is HOGA1.
UniProtKB/Swiss-Prot Summary for NPL Gene
Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity).