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FLASH GENE

Symbol

SUMO1

contributors: mct/ - updated : 29-09-2018

HGNC name	SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)
HGNC id	12502

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cardiovascular aquired heart failure targeting SUMO1 may provide a novel therapeutic strategy for the treatment of heart failure

ANIMAL & CELL MODELS