CAA10791.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
49,405 Da
NCBI Official Full Name
fibulin-4
NCBI Official Synonym Full Names
EGF containing fibulin-like extracellular matrix protein 2
NCBI Protein Information
EGF-containing fibulin-like extracellular matrix protein 2
UniProt Protein Name
EGF-containing fibulin-like extracellular matrix protein 2
UniProt Synonym Protein Names
Fibulin-4; FIBL-4; Protein UPH1
UniProt Synonym Gene Names
UniProt Entry Name
FBLN4_HUMAN
NCBI Summary for FBLN4
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. [provided by RefSeq, Jan 2011]
UniProt Comments for FBLN4
EFEMP2: Defects in EFEMP2 are the cause of cutis laxa, autosomal recessive, type 1B (ARCL1B). A connective tissue disorder characterized by characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. Belongs to the fibulin family.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 11q13.1
Cellular Component: extracellular region; basement membrane
Molecular Function: protein binding; extracellular matrix structural constituent; calcium ion binding
Biological Process: extracellular matrix organization and biogenesis
Disease: Cutis Laxa, Autosomal Recessive, Type Ib
Research Articles on FBLN4
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Products associated with FBLN4 clia kit
Pathways associated with FBLN4 clia kit
Organs/Tissues associated with FBLN4 clia kit
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