Primary Identifier | MGI:1337124 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 12764 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-acylneuraminate cytidylyltransferase activity. Involved in CMP-N-acetylneuraminate biosynthetic process and N-acetylneuraminate metabolic process. Is active in nucleoplasm. Is expressed in several structures, including alimentary system; genitourinary system; liver; nervous system; and sensory organ. Used to study focal segmental glomerulosclerosis. Orthologous to human CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase). PHENOTYPE: Mice homozygous for a conditional allele activated in renal cells exhibit focal segmental glomerulosclerosis with weight loss and premature death. [provided by MGI curators] |