Description
Ubiquitin Carboxyl-Terminal Esterase L1 belongs protein family that hydrolyze small Cterminal adducts of ubiquitin to produce the ubiquitin monomer. UCHL1 is a neuron specific protein, structurally and immunologically distinct from neuron specific enolase. Human UCHL1 and UCHL3 have an extremely complicated knot structure for a protein, with five knot crossings. It is considered that the knot structure may increase a protein's resistance to degradation in the proteasome. Standard immunohistochemical techniques have demonstrated the presence of UCHL1 in neurons and nerve fibers at all levels of the central and peripheral nervous system, in many neuroendcrine cells, in segments of the renal tubules, in spermatogonia and Leydig cells of the testis, in ova and in some cells of both the pregnant and non pregnant corpus luteum. A point mutation (I93M) in UCHL1 is implicated as the cause of Parkinson's disease in one kindred. A polymorphism (S18Y) in UCHL1 has been found to be associated with a reduced risk for Parkinson's disease. UCHL1 is associated with the Alzheimer's disease, and required for normal synaptic and cognitive function