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FLASH GENE
Symbol EMILIN1 contributors: mct - updated : 13-12-2022
HGNC name elastin microfibril interfacer 1
HGNC id 19880
ASSOCIATED DISORDERS
corresponding disease(s) DHMN10 , VGTAO
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
SystemTypeDisorderPubmed
cancerdigestivestomach
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