Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol EFEMP1 contributors: mct/npt/shn - updated : 24-07-2010
HGNC name EGF-containing fibulin-like extracellular matrix protein 1
HGNC id 3218
corresponding disease(s) DHRD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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)
Variant & Polymorphism
Candidate gene
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)
  • 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)