Human EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 (EFEMP1) ELISA Kit | EFEMP1 elisa kit
Human EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 (EFEMP1) ELISA Kit
* Allow all reagents to warm to room temperature for at least 30 minutes before opening.
* Pre-rinse the pipet tip with reagent, use fresh pipet tips for each sample, standard and reagent to avoid contamination.
* Unused wells must be kept desiccated at 4 degree C in the sealed bag provided.
* Mix Thoroughly is very important for the result. It is recommended using low frequency oscillator or slight hand shaking every 10 minutes.
* It is recommended that all samples and standards be assayed in duplicate or triplicate.
Background: EGF-containing fibulin-like extracellular matrix protein 1 spans approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splice patterns in the 5' UTR result in three transcript variants encoding the same extracellular matrix protein. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. The cDNA for this gene, designated 'fibrillin-like' (FBNL), was isolated from a fibroblast cDNA library. The FBNL cDNA probe detected 2 transcripts of 2.2 and 3.0 kb in mRNA from multiple tissues. The FBNL gene is expressed in many tissues but it is not expressed in brain and lymphocytes. the amino acid sequence of the FBNL gene is 36.3% identical to FBN1 and 35.4% identical to FBN2 and that FBNL contains repeated cbEGF-like domains, a cardinal motif of FBN genes.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Uniprot Description
EFEMP1: Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth. Defects in EFEMP1 are a cause of Doyne honeycomb retinal dystrophy (DHRD); also known as malattia leventinese (MLVT) (ML). DHRD is an autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. Belongs to the fibulin family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 2p16
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; extracellular region
Molecular Function: protein binding; growth factor activity; epidermal growth factor receptor activity; calcium ion binding; epidermal growth factor receptor binding
Biological Process: epidermal growth factor receptor signaling pathway; extracellular matrix organization and biogenesis; peptidyl-tyrosine phosphorylation; regulation of transcription, DNA-dependent; visual perception; negative regulation of chondrocyte differentiation
Disease: Doyne Honeycomb Retinal Dystrophy
Research Articles on EFEMP1
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Product Notes
The Human EFEMP1 efemp1 (Catalog #AAA9715615) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9715615 ELISA Kit recognizes Human EFEMP1. It is sometimes possible for the material contained within the vial of "EGF-Containing Fibulin-Like Extracellular Matrix Protein 1 (EFEMP1), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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