Primary Identifier | MGI:2685556 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 279028 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables endopeptidase activity. Predicted to be involved in several processes, including extracellular matrix organization; peptide catabolic process; and protein catabolic process. Predicted to be located in extracellular space. Predicted to be active in extracellular matrix. Human ortholog(s) of this gene implicated in thrombotic thrombocytopenic purpura. Orthologous to human ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13). PHENOTYPE: Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. [provided by MGI curators] |