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FLASH GENE

Symbol

EMILIN1

contributors: mct - updated : 13-12-2022

HGNC name	elastin microfibril interfacer 1
HGNC id	19880

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DHMN10 , VGTAO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function caused dermal and epidermal hyperproliferation and accelerated wound closure

Susceptibility

to essential hypertension

Variant & Polymorphism other	frequency of the G-G-T haplotype (established by rs2536512, rs2016116, rs17881426) was significantly higher in essential hypertension

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive stomach membrane proteins TSPAN9 and EMILIN1 may represent novel therapeutic targets for the treatment of gastric cancer

ANIMAL & CELL MODELS

	Homozygous animals for disrupted emilin1 gene were fertile and showed no obvious abnormalities; however, histologic and ultrastructural examination revealed alterations of the elastic fibers in aorta and skin
	Emilin1 knockout animals display increased blood pressure, increased peripheral vascular resistance, and reduced vessel size
	Genetic ablation of Emilin1 in mice causes elastic fiber defects in aorta and skin resulting in vascular abnormalities such as increased blood pressure, increased peripheral vascular resistance, and reduced vessel size
	genetic ablation of Emilin1 in mice causes elastic fiber defects in aorta and skin resulting in vascular abnormalities such as increased blood pressure, increased peripheral vascular resistance, and reduced vessel size