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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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FBLN4 / EFEMP2
EGF containing fibulin-like extracellular matrix protein 2
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene.
| Gene Name: | EGF containing fibulin-like extracellular matrix protein 2 |
| Synonyms: | EFEMP2, ARCL1B, FIBL-4, Fibulin-4, Fibulin 4, Protein UPH1, MBP1, UPH1, FBLN4, Mutant p53 binding protein 1 |
| Target Sequences: | NM_016938 NP_058634.4 O95967 |
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