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FLASH GENE

Symbol

DDHD2

contributors: mct/shn - updated : 17-03-2021

HGNC name	DDHD domain containing 2
HGNC id	29106

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPG54

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   causes disorganization of the ER and Golgi

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Knockdown of Ddhd2 Drosophila ortholog resulted in a mild but highly significant decrease in active-zone number per synaptic terminal
	genetic deletion of this enzyme in mice leads to ectopic lipid droplet (LD) accumulation in neurons throughout the brain