UniProt functional annotation for P04080

UniProt code: P04080.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.
 
Subunit: Able to form dimers stabilized by noncovalent forces.
Subcellular location: Cytoplasm {ECO:0000269|PubMed:11139332}. Nucleus {ECO:0000269|PubMed:11139332}.
Disease: Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: An autosomal recessive disorder characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. {ECO:0000269|PubMed:9012407}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity: Belongs to the cystatin family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.