Ubiquitin carboxy-terminal hydrolase L1

Ubiquitin carboxy-terminal hydrolase L1

Immunohistochemical staining of UCH-L1 in brain tissue

Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is an enzyme that in humans is encoded by the UCHL1 gene. It is a member of the ubiquitin carboxy-terminal hydrolase family, which is involved in the processing of ubiquitin precursors and ubiquitinated proteins.

Function

UCH-L1 is a deubiquitinating enzyme that plays a critical role in the ubiquitin-proteasome system, which is responsible for the degradation of most intracellular proteins. It is highly expressed in the brain and is involved in the regulation of neuronal development and function. UCH-L1 is also implicated in the maintenance of synaptic plasticity and neurotransmission.

Clinical significance

Mutations in the UCHL1 gene have been associated with Parkinson's disease, a neurodegenerative disorder characterized by the loss of dopaminergic neurons in the substantia nigra. UCH-L1 is also considered a potential biomarker for neurodegenerative diseases due to its high expression in neurons and its involvement in protein homeostasis.

Research

Studies have shown that UCH-L1 may play a role in cancer progression, particularly in lung cancer and breast cancer. Its expression levels have been correlated with tumor aggressiveness and patient prognosis. Additionally, UCH-L1 is being investigated as a target for therapeutic intervention in various diseases.

Related pages

• Ubiquitin-proteasome system
• Parkinson's disease
• Neurodegenerative disease

Ubiquitin carboxy-terminal hydrolase L1

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