| Primary Identifier | MGI:97511 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 18548 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity and serine-type endopeptidase activity. Involved in insulin processing and peptide biosynthetic process. Located in extracellular space. Is active in secretory granule. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; female reproductive system; and nose. Used to study endocrine system disease and obesity. Human ortholog(s) of this gene implicated in obesity and proprotein convertase 1/3 deficiency. Orthologous to human PCSK1 (proprotein convertase subtilisin/kexin type 1). PHENOTYPE: Homozygotes for a null allele show pre- and postnatal death, low weight, diarrhea, hypoglycemia, low insulin and GHRH levels, and lack mature glucagon and ACTH levels. Homozygotes for another null allele die prior to implantation. ENU mutants show obesity, polyphagia and higher metabolic efficiency. [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
