Variants
Sign InSign Up

UCHL1 Gene

ubiquitin C-terminal hydrolase L1

ALIAS SYMBOLS

  • PGP9.5

  • Uch-L1

Your Results

Sign In

Description

The UCHL1 gene provides instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1. This enzyme is found in nerve cells throughout the brain. Ubiquitin carboxyl-terminal esterase L1 is probably involved in the cell machinery that breaks down (degrades) unneeded proteins. In cells, damaged or excess proteins are tagged with molecules called ubiquitin. Ubiquitin serves as a signal to move these unneeded proteins into specialized structures known as proteasomes, where the proteins are degraded. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins.

Although the exact function of ubiquitin carboxyl-terminal esterase L1 is not fully understood, it appears to have two types of enzyme activity. One of these, called hydrolase activity, removes and recycles ubiquitin molecules from degraded proteins. This recycling step is important to sustain the degradation process. The other enzyme function, known as ligase activity, links together ubiquitin molecules for use in tagging proteins for disposal.

CHROMOSOME

4


LOCATION

p13


LOCUS TYPE

gene with protein product

VARIANTS

79

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:12513

  • NCBI

    7345

  • OMIM

    191342

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.