| Primary Identifier | MGI:1916330 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 69080 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme regulator activity and molecular sensor activity. Involved in negative regulation of metabolic process. Acts upstream of or within several processes, including GDP-mannose biosynthetic process; motor behavior; and protein glycosylation. Predicted to be part of GDP-mannose pyrophosphorylase complex. Predicted to be active in cytosol. Is expressed in several structures, including adrenal gland; alimentary system; central nervous system; eye; and gonad. Used to study alacrima, achalasia, and impaired intellectual development syndrome. Human ortholog(s) of this gene implicated in alacrima, achalasia, and impaired intellectual development syndrome. Orthologous to human GMPPA (GDP-mannose pyrophosphorylase A). PHENOTYPE: Mice homozygous for a null allele exhibit cortical layer defects, progressive neuron loss, myopathic alterations, progressive muscle weakness, cognitive impairments, and increased serum mannose levels. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
