| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
EGF-containing fibulin-like extracellular matrix protein 2
|
| http://www.biopax.org/relea... |
FBLN4_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
FIBL-4,
Fibulin-4,
Protein UPH1
|
| http://www.biopax.org/relea... |
SUBCELLULAR LOCATION: Secreted. DISEASE: Defects in EFEMP2 are a cause of cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]. Hereditary cutis laxa refers to a heterogeneous group of connective tissue disorders characterized by cutaneous abnormalities and variable systemic manifestations. The most constant clinical feature is loose skin, sagging over the face and trunk. Hereditary cutis laxa is inherited in both autosomal dominant and autosomal recessive modes. ARCL1 shows the most severe phenotype and has the poorest prognosis. In addition to the skin, internal organs enriched in elastic fibers, such as the lung and arteries, are affected. SIMILARITY: Belongs to the fibulin family. SIMILARITY: Contains 6 EGF-like domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EFEMP2"; GENE SYNONYMS: FBLN4. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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