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SAE1

Synonyms
AOS1, HSPC140, SUA1, UBLE1A
External resources
Summary
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,814
Likely benign
10,478
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SAE1 gene.

Phenotype class
Patients in 3billion (%)

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