Primary Identifier | MGI:1346053 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 23925 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables metallopeptidase activity. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Located in membrane. Orthologous to human KEL (Kell metallo-endopeptidase (Kell blood group)). PHENOTYPE: Mice homozygous for a null allele exhibit decreased heart rate, altered hematological parameters and ECG waveform features, decreased erythrocyte Mg2+ and K+ ion content, mild motor deficits, and giant axon changes with varying degrees of paranodal demyelination in the spinal cord and sciatic nerve. [provided by MGI curators] |