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FLASH GENE

Symbol

UFD1

contributors: mct/npt - updated : 29-06-2020

HGNC name	ubiquitin recognition factor in ER associated degradation 1
HGNC id	12520

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL22Q11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in DiGeorge/velocardiofacial syndrome constitutional     --low   in Bicuspid aortic valve (BAV) tumoral     --over   in adrenocortical carcinomas

Susceptibility

to schizophrenia in Chinese

Variant & Polymorphism

Candidate gene	del22q11 (DEL22Q11)
Marker
Therapy target

ANIMAL & CELL MODELS