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Scientific Newsletter

Editor's Notes

from literature on

EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1)

Editor's Notes

Recent update from: 19.12.1999


EFEMP1 Notes

  • Expressed in RPE, choroid, and neurosensory retina
  • Homologue to extracellular matrix glycoproteins
  • Contains EGF domain
Species: Homo sapiens
See also:
Chromosomal localisation in man: 2p16-21

in mouse:
Gene Data

Exons:
Primers:
Protein Data
Aminoacids:
Molecularweight on SDS-PAGE:

calculated:
Reference: (1)


Efemp1 Notes

  • Expressed in eye, lung, and less in brain, heart, kidney
Species: Mus musculus (domesticus)
See also:
Chromosomal localisation in man:

in mouse:
Gene Data
mRNA: 2.4 kb
Exons:
Primers:
Protein Data
Aminoacids:
Molecularweight on SDS-PAGE:

calculated:
Reference: (1)


References:

1. Stone, E.M., Lotery, A.J., Munier, F.L., Heon, E., Piguet, B., Guymer, R.H., Vandenburgh, K., Cousin, P., Nishimura, D., Swiderski, R.E., Silvestri, G., Mackey, D.A., Hageman, G.S., Bird, A.C., Sheffield, V.C., and Schorderet, D.F. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 1999; Nat.Genet. 22: 199 - 202.
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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz