Homozygotes for a hypomorphic mutation develop severe tremors by 3 weeks of age, followed by hindlimb paralysis and premature death. An underdeveloped corpus callosum, hippocampus, dentate gyrus and forebrain structures, and notable defects in synaptic transmission in both the CNS and PNS are seen.
|Process||negative regulation of endopeptidase activity, negative regulation of ER-associated ubiquitin-dependent protein catabolic process, ...|
|Component||cell surface, cytoplasm, ...|
|Function||cysteine-type endopeptidase activity, cysteine-type peptidase activity, ...|
|InterPro||IPR001394||Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2|
|InterPro||IPR018200||Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site|
|InterPro||IPR019954||Ubiquitin conserved site|
|Protein Ontology||PR:000017150||ubiquitin carboxyl-terminal hydrolase 14|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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