Primary Identifier | MGI:1921341 | Organism | Mus musculus |
Chromosome | 1 | NCBI Gene Number | 74091 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 5.2.1) Enables N-acetylneuraminate lyase activity. Predicted to be involved in N-acetylneuraminate catabolic process. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be located in cytoplasm. Is expressed in 2-cell stage embryo; eye; and nervous system. Orthologous to human NPL (N-acetylneuraminate pyruvate lyase). PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. [provided by MGI curators] |