| Primary Identifier | MGI:1861434 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 56464 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cysteine-type endopeptidase activity. Predicted to be involved in proteolysis involved in protein catabolic process. Predicted to be located in endoplasmic reticulum and plasma membrane. Predicted to be active in extracellular space and lysosome. Is expressed in adrenal gland and blood vessel. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 13. Orthologous to human CTSF (cathepsin F). PHENOTYPE: Mice homozygous for a knock-out allele develop neuronal lipofuscinosis and late-onset neurological disease characterized by reduced brain mass, progressive hind leg weakness, impaired motor coordination, tremors, severe gliosis, general wasting, and premature death. [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
