| Primary Identifier | MGI:88564 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 13039 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cysteine-type carboxypeptidase activity; endopeptidase activity; and histone binding activity. Involved in several processes, including collagen catabolic process; protein catabolic process; and thyroid hormone generation. Acts upstream of or within decidualization; hair follicle morphogenesis; and negative regulation of keratinocyte proliferation. Located in several cellular components, including external side of plasma membrane; lysosome; and nucleolus. Is expressed in several structures, including brain; extraembryonic component; eye; genitourinary system; and lung. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in hypertrophic cardiomyopathy. Orthologous to several human genes including CTSV (cathepsin V). PHENOTYPE: Homozygotes for mutant alleles may show partial or complete hair-loss, skin defects, impaired T cell maturation, dilated cardiomyopathy, and high postnatal mortality. Mutant males for some alleles show both normal and atrophic seminiferous tubules and reduced sperm production. [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
