DISEASES

Disease-gene associations mined from literature

Literature on NSMCE4A

NSMCE4A [ENSP00000358019]

Non-structural maintenance of chromosomes element 4 homolog A; Component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. 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). Is involved in positive regulation of response to DNA damage stimulus.

Synonyms:  NSMCE4A,  NSMCE4Ap,  hNSMCE4A,  Q9NXX6,  Q9NXX6p ...

Linkouts:  STRING  Pharos  UniProt  OMIM