| Primary Identifier | MGI:2159437 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 67269 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables metallocarboxypeptidase activity and tubulin binding activity. Involved in mitochondrion organization; nervous system development; and neuromuscular process. Acts upstream of or within several processes, including adult walking behavior; axonal transport of mitochondrion; and central nervous system development. Located in cytosol; mitochondrion; and nucleus. Is expressed in several structures, including central nervous system; early embryo; genitourinary system; liver; and retina. Used to study retinitis pigmentosa. Orthologous to human AGTPBP1 (ATP/GTP binding carboxypeptidase 1). PHENOTYPE: Homozygotes show moderate ataxia due to degeneration of Purkinje cells of the cerebellum. Also, there is gradual degeneration of retina photoreceptor cells, olfactory bulb mitral cells and some thalamic neurons. Males have abnormal sperm and are sterile. [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
