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FLASH GENE

Symbol

CD3E

contributors: mct - updated : 01-09-2017

HGNC name	CD3E antigen, epsilon polypeptide (TiT3 complex)
HGNC id	1674

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

IMD18 , SCIDTE

related resource

CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in patients with aplastic anemia (AA)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	CD3epsilon transgenic mice, tgepsilon26, exhibits severe immunodeficiency associated with early arrest of T cell development
	mice lacking a functional Cd3e-basic-rich stretch (BRS) exhibited substantial reductions in thymic cellularity and limited CD4- CD8- double-negative (DN) 3 to DN4 thymocyte transition