SMC5 Chromosome 9

Structural maintenance of chromosomes 5

3 variants 3 Health Risk

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What This Gene Does

Enables DNA secondary structure binding activity. Involved in several processes, including DNA recombination; negative regulation by host of viral genome replication; and positive regulation of cell cycle process. Located in cell junction; chromosome; and nuclear body. Part of Smc5-Smc6 complex. Is active in nucleus. Implicated in mosaic variegated aneuploidy syndrome. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

"Structural maintenance of chromosomes proteins|SMC5/6 complex"

Locus Type

gene with protein product

Location

9q21.12

Ensembl

ENSG00000198887

Associated Conditions (1)

Atelis syndrome 2

Key Variants

RS1429544702

Pathogenic

Atelis syndrome 2, Atelis syndrome 2

Health Risk

RS2489528087

Pathogenic

Atelis syndrome 2, Atelis syndrome 2

Health Risk

RS751830146

Pathogenic

Atelis syndrome 2, Atelis syndrome 2

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1429544702	Health Risk	Pathogenic	Atelis syndrome 2, Atelis syndrome 2
RS2489528087	Health Risk	Pathogenic	Atelis syndrome 2, Atelis syndrome 2
RS751830146	Health Risk	Pathogenic	Atelis syndrome 2, Atelis syndrome 2