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Non-SMC element 4 homolog A, SMC5-SMC6 complex component (NSMCE4A)

Target
NSMCE4A
Molecular classification
Other (scaffold protein, component of SMC5-SMC6 complex)
01

Overview

Non-SMC element 4 homolog A, SMC5-SMC6 complex component (NSMCE4A) is an essential scaffold protein that forms part of the SMC5-SMC6 complex, a highly conserved multiprotein assembly critical for DNA repair and genome integrity[1][5]. NSMCE4A participates in the DNA damage response, promoting homologous recombination, sister chromatid cohesion, and telomere maintenance via recombination, especially in alternative lengthening of telomeres (ALT) cell lines[1]. It interacts closely with other SMC5-SMC6 components (including NSE3 and NSE1), and with MAGE family proteins to modulate post-translational modifications such as ubiquitin-ligase activity, thereby linking chromosome maintenance to protein turnover[5]. Mutations or deletions in NSMCE4A are implicated in rare heritable diseases and may contribute to cancer through failure of genome surveillance mechanisms[1][5]. Currently, NSMCE4A is not a direct therapeutic target for drugs, and there are no established clinical biomarkers or approved drugs targeting this protein[1][5].

Other names
NSE4ANSMCE4AC10orf86PP4762NS4EANon-SMC element 4 homolog AFLJ20003bA500G22.3
02

Biological functions

DNA damage responseDNA repairSister chromatid homologous recombinationTelomere maintenancePositive regulation of response to DNA damage stimulusScaffold for protein complexes
03

Disease associations

Chromosome 10q26 deletion syndromeVentricular tachycardia, catecholaminergic polymorphic, 2Potential links to cancer (via genome instability and ALT telomere pathway)
04

Safety considerations

Essential for genome integrity; disruption may cause cell death or cancer due to genome instability[1][5]

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