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FLASH GENE

Symbol

OXSM

contributors: mct - updated : 08-12-2020

HGNC name	3-oxoacyl-ACP synthase, mitochondrial
HGNC id	26063

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

autoantibodies have been found in patients with cancer-associated retinopathy and autoimmune retinopathy without diagnosed cancer. These autoantibodies have the capacity to induce pathogenic effect on retinal cells by decreasing cell survival by blocking the CA2 cellular functions (Adamus 2009)

Variant & Polymorphism

Candidate gene
Marker
Therapy target	anti-CA2 antibody may be a useful tool for the differential diagnosis of AIP and pancreatic cancer (Hosoda 2008)

ANIMAL & CELL MODELS

reduction of mitochondrial 3-oxoacyl-ACP synthase (Oxsm) by hyperglycemia is associated with deficiency of alpha-lipoic acid synthetic pathway in kidney of diabetic mice