RecName: Full=Ubiquitin carboxyl-terminal hydrolase isozyme L1; Short= - Protein

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UCHL1 is a potential molecular indicator and therapeutic target for neuroendocrine carcinomas. [Cell Rep Med. 2024]
UCHL1 is a potential molecular indicator and therapeutic target for neuroendocrine carcinomas.
Liu S, Chai T, Garcia-Marques F, Yin Q, Hsu EC, Shen M, Shaw Toland AM, Bermudez A, Hartono AB, Massey CF, et al. Cell Rep Med. 2024 Feb 20; 5(2):101381. Epub 2024 Jan 19.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. [Genet Med. 2023]
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, et al. Genet Med. 2023 Oct; 25(10):100961. Epub 2023 Aug 31.
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. [Mol Genet Metab. 2023]
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, et al. Mol Genet Metab. 2023 Nov; 140(3):107656. Epub 2023 Jul 23.

RefSeq genomic sequence
See the genomic reference sequence for the UCHL1 gene (NG_012931.1).
RefSeq protein
See the reference protein sequence for ubiquitin carboxyl-terminal hydrolase isozyme L1 (NP_004172.2).

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P09936 [Domain Mapping of Disease Mut...]
P09936
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
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ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=Ubiquitin carboxyl-terminal hydrolase isozyme L1; Short=UCH-L1; Al...
RecName: Full=Ubiquitin carboxyl-terminal hydrolase isozyme L1; Short=UCH-L1; AltName: Full=Neuron cytoplasmic protein 9.5; AltName: Full=PGP 9.5; Short=PGP9.5; AltName: Full=Ubiquitin thioesterase L1; Flags: Precursor
gi|136681|sp|P09936.2|UCHL1_HUMAN

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