| Primary Identifier | MGI:891970 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 20701 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables serine-type endopeptidase inhibitor activity. Acts upstream of or within several processes, including in utero embryonic development; protein N-linked glycosylation; and response to peptide hormone. Located in extracellular region. Is expressed in gut; liver lobe; nucleus pulposus; and renal calyx. Human ortholog(s) of this gene implicated in several diseases, including alpha 1-antitrypsin deficiency; artery disease (multiple); chronic obstructive pulmonary disease (multiple); inflammatory bowel disease (multiple); and liver disease (multiple). Orthologous to human SERPINA1 (serpin family A member 1). PHENOTYPE: Targeted disruption of this gene leads to significantly fewer than expected heterozygous and homozygous offspring from heterozygous matings. Homozygotes are healthy with no obvious changes in major organs while heterozygotes show a 30% decrease in serum anti-elastase and anti-chymotrypsin activity. [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
