RecName: Full=E3 ubiquitin-protein ligase LRSAM1; AltName: Full=Leucin - Protein

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A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P. [Clin Neurol Neurosurg. 2024]
A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.
Milella G, Amati A, Lastella P, Zanfardino P, Petruzzella V, Zoccolella S. Clin Neurol Neurosurg. 2024 Feb; 237:108158. Epub 2024 Feb 3.
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P. [Neuromuscul Disord. 2021]
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Reilich P, Schlotter B, Montagnese F, Jordan B, Stock F, Schäff-Vogelsang M, Hotter B, Eger K, Diebold I, Erdmann H, et al. Neuromuscul Disord. 2021 Feb; 31(2):123-133. Epub 2020 Nov 28.
LRSAM1 E3 ubiquitin ligase promotes proteasomal clearance of E6-AP protein. [Cell Signal. 2021]
LRSAM1 E3 ubiquitin ligase promotes proteasomal clearance of E6-AP protein.
Mishra R, Joshi V, Upadhyay A, Amanullah A, Dubey AR, Singh S, Dubey VK, Poluri KM, Jana NR, Mishra A. Cell Signal. 2021 Jan; 77:109836. Epub 2020 Nov 15.

RefSeq genomic sequence
See the genomic reference sequence for the LRSAM1 gene (NG_032008.1).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the LRSAM1 gene.

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Q6UWE0 [Domain Mapping of Disease Mut...]
Q6UWE0
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
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Reactome
reagents [ExactAntigen/Labome]
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Protein