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FLASH GENE

Symbol

EFEMP1

contributors: mct/npt/shn - updated : 24-07-2010

HGNC name	EGF-containing fibulin-like extracellular matrix protein 1
HGNC id	3218

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DHRD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   reduced the expression of SOX5 and SOX6, while it maintained the expression of SOX9 (Wakabayashi 2010) tumoral     --over   uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion (Hu 2009)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	could be a potential target against tumor progression in gliomas (Hu 2009)
	promising candidate for assessing prognosis and individualizing therapy in a clinical tumor setting (Seeliger 2009)

ANIMAL & CELL MODELS

	Efemp1(-/-) mice exhibit reduced reproductivity, early onset of aging-associated phenotypes including reduced lifespan, decreased body mass, lordokyphosis, reduced hair growth, and generalized fat, muscle and organ atrophy (McLaughlin et al, 2007)
	Efemp1(-/-) mice on a C57BL/6 genetic background develop multiple large hernias with inguinal hernias, pelvic prolapse and protrusions of the xiphoid process whereas Efemp1(-/-) mice on a BALB/c background rarely have any forms of hernias (McLaughlin et al, 2007)
	Efemp1-R345W knockin mice develop deposits of material between Bruch's membrane and the RPE, which resemble basal deposits in patients with Age-related macular degeneration (Fu et al, 2007)
	heterozygous and homozygous mice Efemp1 knock-in mice (R345W) develop small isolated sub-RPE deposits at 4 months of age (Marmorstein et al, 2007)