Primary Identifier | MGI:1203290 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 17221 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cadherin binding activity. Predicted to contribute to endopeptidase activity. Predicted to be involved in several processes, including positive regulation of T cell activation; regulation of macromolecule metabolic process; and regulation of signal transduction. Predicted to be located in basolateral plasma membrane; cell surface; and inner acrosomal membrane. Predicted to be active in extracellular space and plasma membrane. Is expressed in testis. Used to study age related macular degeneration. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; hemolytic-uremic syndrome; meningococcal meningitis; multiple sclerosis; and pre-eclampsia. Orthologous to human CD46 (CD46 molecule). PHENOTYPE: Homozygous mutation of this gene results in increased litter sizes sired by mutant males. Another homozygous null mouse shows increased susceptibility to induced choroid neovascularization. [provided by MGI curators] |