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DEE85
Chr XXLDstructural maintenance of chromosomes 1A
Also known as: CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha
The encoded protein is a structural maintenance of chromosomes (SMC) protein that forms part of the cohesin multiprotein complex required for sister chromatid cohesion during cell division and functions in DNA repair through interactions with BRCA1. Mutations cause developmental and epileptic encephalopathy 85, which may include midline brain defects and represents an early-onset seizure disorder with developmental impairment. This condition follows X-linked dominant inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE85?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DEE85 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
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External Resources
Links to major genomics databases and tools