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FLASH GENE
Symbol SUMO1 contributors: mct/ - updated : 29-09-2016
HGNC name SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)
HGNC id 12502
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in autism with duplicated UBE3A
constitutional        
haploinsufficiency leads to cleft lip and palate
constitutional     --other  
alterations in SUMO1 substrate conjugation may occur and global posttranslational modifications by ubiquitin may play an important role in the mechanisms underlying Alzheimer disease
constitutional     --over  
in isolated cardiomyocytes augmented contractility and accelerated Ca2+ decay
Susceptibility to non-syndromic cleft lip with or without cleft palate (NSCLP)
Variant & Polymorphism SNP significant correlations between a 4-SNP SUMO1 haplotype and NSCLP
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cardiovascularaquiredheart failure
targeting SUMO1 may provide a novel therapeutic strategy for the treatment of heart failure
ANIMAL & CELL MODELS