Fibulin 4 (FBLN4)

EFEMP2; MBP1; UPH1; EGF-Containing Fibulin-Like Extracellular Matrix Protein 2

SPN	R376
HGNC	3219
MGI	1891209
PubMed	22943132
UniProt	O95967
Wiki	EFEMP2

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. FBLN4 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.EFEMP1 is likewise expressed in a wide range of adult and fetal tissues. In contrast to EFEMP1, however, EFEMP2 was not significantly overexpressed in senescent or quiescent fibroblasts, suggesting a diversity of function within this EGF-like domain subfamily.

Reference

"Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4."
Matrix Biol. 18:469-480(1999) [PubMed] [Europe PMC] [Abstract]

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Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]

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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Solution NMR structure of the EGF-like 1 domain of human fibulin-4."
Submitted (JUL-2009) to the PDB data bank

"Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome."
Am. J. Hum. Genet. 78:1075-1080(2006) [PubMed] [Europe PMC] [Abstract]

"Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa."
Am. J. Med. Genet. A 143:2635-2641(2007) [PubMed] [Europe PMC] [Abstract]

"Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation."
Clin. Genet. 76:276-281(2009) [PubMed] [Europe PMC] [Abstract]