PGP9.5 ist ein Gen, das durch das Symbol UCHL1 kodiert wird. Im Allgemeinen auch bezeichnet als: Ubiquitin carboxyl-terminal hydrolase isozyme L1; UCH-L1; Neuron cytoplasmic protein 9.5; PGP 9.5; Ubiquitin thioesterase L1; UCHL1. PGP9.5 hat eine Masse von 24.82kDa, eine Aminosäurelänge von 223, und ist an folgenden Krankheiten beteiligt: Parkinson disease 5; Spastic paraplegia 79, autosomal recessive.
Wir bieten 49 antikörper gegen PGP9.5, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC and ChIP mit Proben abgeleitet von Human, Maus, Ratte, Rind, Schwein, Kaninchen, Schaf, Hund, Donkey, Meerschweinchen und Zebrafisch.
Gen- und Proteininformationen
UniProt Zusammenfassung
Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (Probable). This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin (PubMed:9774100, PubMed:8639624, PubMed:12408865, PubMed:23359680). Also binds to free monoubiquitin and may prevent its degradation in lysosomes (By similarity). The homodimer may have ATP-independent ubiquitin ligase activity (PubMed:12408865).
Entrez Zusammenfassung
The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.
Gewebespezifität
Found in neuronal cell bodies and processes throughout the neocortex (at protein level). Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary. Down-regulated in brains from Parkinson disease and Alzheimer disease patients.
Rolle bei Krankheiten
Parkinson disease 5: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia.
Spastic paraplegia 79, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79 is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction.
Sequenzähnlichkeiten
Belongs to the peptidase C12 family.
Posttranslationale Modifikation
O-glycosylated.
Zellort
Cytoplasm. Endoplasmic reticulum membrane.
About 30% of total UCHL1 is associated with membranes in brain.
