| Primary Identifier | MGI:107537 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 12752 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium-dependent protein binding activity. Involved in several processes, including modulation of chemical synaptic transmission; regulation of vesicle-mediated transport; and vacuole organization. Acts upstream of or within several processes, including autophagosome maturation; regulation of filopodium assembly; and regulation of protein metabolic process. Located in several cellular components, including endosome; trans-Golgi network; and vacuole. Is expressed in several structures, including alimentary system; interstitium of the testis; nervous system; sensory organ; and thymus. Used to study neuronal ceroid lipofuscinosis 3. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 3. Orthologous to human CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin). PHENOTYPE: Nullizygous mutations can result in neuronal ceroid lipofuscinosis, degeneration of the retina, cerebral cortex and cerebellum, hypertrophy of hippocampal interneuron populations, gliosis, neurological deficits, and premature death. Homozygotes for a null allele show impaired water and K+ balance. [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
