NSE3 component of SMC5/6 complex
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Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomallung disease, immunodeficiency, and chromosome breakage syndrome;
placental abruption
non-Hodgkin lymphoma
pregnancy disorder
cervical carcinoma
ovarian neoplasm
neuroendocrine neoplasm
alcohol drinking
urolithiasis
diabetes mellitus
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Non-structural maintenance of chromosomes element 3 homolog
Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination (PubMed:20864041, PubMed:27427983). The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). In vitro enhances ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex (PubMed:20864041). May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest (By similarity)
NSMCE3 · Q96MG7
Mean pLDDT
74.6/ 100
Confident
304 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
