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FLASH GENE

Symbol

ATAD3A

contributors: mct - updated : 16-11-2017

HGNC name	ATPase family, AAA domain containing 3A
HGNC id	25567

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ATAD3AD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   of ATAD3A/ATAD3B may be involved in the transformation pathway and the chemosensitivity of oligodendrogliomas ( tumoral     --over   associated with poor survival in breast cancer patients constitutional fusion       ATAD3A-C fusion protein is uniquely associated with the severe neonatal phenotype and therefore is likely causal constitutional   translocation     genomic rearrangements affecting the ATAD3C/ATAD3B genes on one allele and ATAD3B/ATAD3A genes on the other displays later-onset encephalopathy with cerebellar atrophy, ataxia and dystonia

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	could be an anti-apoptotic marker in lung adenocarcinoma
Therapy target

ANIMAL & CELL MODELS

Atad3-deficient embryos die around E7.5 due to growth retardation and a defective development of the trophoblast lineage; heterozygotes seem unaffected