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FLASH GENE

Symbol

DDRGK1

contributors: mct - updated : 13-12-2019

HGNC name	DDRGK domain containing 1
HGNC id	16110

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SEMDSH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function led to elevated ER (endoplasmic reticulum) stress and activation of unfolded protein response (UPR), and consequently cell death of hematopoietic stem/progenitor cells

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	DDRGK1 in urine indicative of tubular cell injury in intensive care patients with serious infections
Therapy target

ANIMAL & CELL MODELS

Ddrgk1 -/- mice displayed delayed limb bud chondrogenic condensation, decreased Sox9 protein expression and Col2a1 transcript levels, and increased apoptosis