SMC3

Chr 10AD

structural maintenance of chromosomes 3

Also known as: BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1

NCBI Gene: 9126 ENSG00000108055 UniProt: Q9UQE7 OMIM: 606062

The SMC3 protein is a component of the cohesin complex that holds sister chromatids together during mitosis, enabling proper chromosome segregation. Loss-of-function mutations cause Cornelia de Lange syndrome 3, inherited in an autosomal dominant pattern. The gene is extremely intolerant to loss-of-function variants, indicating haploinsufficiency as the likely pathogenic mechanism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cornelia de Lange syndrome 3MIM #610759

Clinical highlights

Gene-disease validity (ClinGen)

Cornelia de Lange syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.04

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — SMC3