Primary Identifier | MGI:97502 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 18537 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Acts upstream of or within protein methylation. Predicted to be located in several cellular components, including basolateral plasma membrane; brush border membrane; and perikaryon. Predicted to be active in cytoplasm. Orthologous to human PCMT1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase). PHENOTYPE: Homozygous disruption of this gene causes accumulation of modified proteins, growth retardation and fatal epileptic seizures. Homozygotes for one null allele also show a small spleen, altered lipid, hormone, mineral and enzyme profiles, kyphosis, enlarged brain and abnormal dendritic arborizations. [provided by MGI curators] |