SMC6
Description
The SMC6 (structural maintenance of chromosomes 6) is a protein-coding gene located on chromosome 2.
SMC6 is a protein encoded by the SMC6 gene in humans. It forms a heterodimeric complex with SMC5, known as the SMC5/6 complex. This complex consists of SMC5, SMC6, and six non-structural maintenance of chromosomes (NSE) proteins. The NSE1-NSE3-NSE4 subunits bridge the heads of SMC5 and SMC6, allowing DNA binding. SMC6 is potentially involved in the alternative lengthening of telomeres (ALT) cancer mechanism. The SMC5/6 complex has localization methods that are not highly conserved across species.
SMC6, a core component of the SMC5-SMC6 complex, plays a critical role in DNA double-strand break repair through homologous recombination. This complex contributes to sister chromatid homologous recombination by facilitating the recruitment of the SMC1-SMC3 cohesin complex to the break site. It is essential for telomere maintenance through recombination in ALT (alternative lengthening of telomeres) cell lines. The complex mediates sumoylation of shelterin complex components, potentially leading to shelterin complex disassembly in ALT-associated PML bodies (APBs). SMC6 is required for the recruitment of telomeres to PML nuclear bodies. Additionally, the SMC5-SMC6 complex may suppress the transcription of episomal DNA, such as circular viral DNA genomes.
SMC6 is also known as SMC-6, SMC6L1, hSMC6.
Associated Diseases
- endometrial cancer
- hereditary neoplastic syndrome
- diabetes mellitus, permanent neonatal 4
- congenital lethal erythroderma
- neutropenia, severe congenital, 1, autosomal dominant
- permanent neonatal diabetes mellitus 1
- dehydrated hereditary stomatocytosis
