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FLASH GENE

Symbol

DNASE1

contributors: mct - updated : 25-02-2020

HGNC name	deoxyribonuclease I
HGNC id	2956

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   and heterozygous nonsense mutation in systemic lupus erythematosus constitutional     --over   serum DNASE1-activity is significantly decreased in autoimmune liver diseases (ALD) patients constitutional     --over   in type 2 diabetes, and high glucose combined with increased DNASEI is suggested to aggravate beta-cell apoptosis constitutional     --low   of the DNASE1 mRNA expression in patients with autoimmune thyroid disease

Susceptibility

to thyroid autoimmunity

Variant & Polymorphism SNP	novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity

Candidate gene
Marker	decrease of DNASE1 activity in systemic lupus erythematosus (SLE) flare-ups might be a functional biomarker of a subset of patients with specific dysfunction of apoptotic chromatin degradation
Therapy target

ANIMAL & CELL MODELS

Dnase1-deficient mice develop an SLE-like disease, but these mice also carry a deletion of the gene adjacent to Dnase1, which encodes the chaperone TRAP1/HSP75