LRSAM1 Antibody

1. We identified a novel LRSAM1 missense mutation (c.2120C > T, p.Pro707Leu) mapping to the RING domain. The identified missense mutation, as well as of another recently reported pathogenic missense mutation (c.2081G > A, p.Cys694Tyr), revealed that in vitro ubiquitylation activity was largely abrogated. PMID: 28335037
2. findings suggest that the mutant LRSAM1 may aberrantly affect the formation of transcription machinery. PMID: 27615052
3. findings demonstrate that the isolated genetic entity Charcot-Marie-Tooth type 2G is caused by a missense mutation in LRSAM1. PMID: 27686364
4. LRSAM1 exhibited self-association in vitro and in vivo. The study found the self-association of LRSAM1 promotes intermolecular ubiquitination and proved a potential N-terminal ubiquitination. PMID: 28189685
5. disruption of the C-terminal RING domain confers dominant negative properties to LRSAM1 PMID: 24894446
6. Our data further confirms that LRSAM1 mutations are associated with CMT2 of AD inheritance. PMID: 22781092
7. Authors identify LRSAM1 as the E3 ligase responsible for anti-Salmonella autophagy-associated ubiquitination. PMID: 23245322
8. homozygous mutation in LRSAM1 was proposed as a strong candidate for the disease in a family with recessive axonal polyneuropathy PMID: 22012984
9. LRSAM1 as a component of the antibacterial autophagic response. PMID: 20616063
10. LRSAM1 is a strong candidate for the causal gene for the Charcot-Marie-Tooth disease. PMID: 20865121
11. Results suggest that RIFLE represents a novel signaling protein that mediates components of the Wnt/wingless signaling pathway and cell adhesion in PC12 cells [RIFLE protein]. PMID: 14635195
12. Tal regulates a Tsg101-associated complex responsible for the sorting of cargo into cytoplasm-containing vesicles that bud at the multivesicular body and at the plasma membrane PMID: 15256501
13. Tal polyubiquitinates lysine residues in the C-terminus of uncomplexed Tsg101, resulting in proteasomal degradation. PMID: 18077552

Show More

Hide All

HGNC: 25135

OMIM: 610933

KEGG: hsa:90678

STRING: 9606.ENSP00000300417

UniGene: Hs.495188