Human Fibulin 3 ELISA Kit | EFEMP1 elisa kit

Human Fibulin 3 ELISA Kit

Cat. Num. AAA8248350

• Gene Names: EFEMP1; DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3
• Reactivity: Human
• Synonyms: Fibulin 3; Human Fibulin 3 ELISA Kit; FBLN3; FBNL; EGF-containing fibulin-like extracellular matrix protein 1; Extracellular protein S1-5; Fibrillin-like protein; Fibulin-3; FIBL-3; EFEMP1 elisa kit

• Reactivity: Human
• Specificity: The Human Fibulin 3 ELISA Kit allows for the detection and quantification of endogenous levels of natural and/or recombinant Human Fibulin 3 proteins within the range of 312 pg/ml - 20000 pg/ml.
• Sequence Length: 493

• Samples: Cell Culture Supernates, Serum, Plasma
• Sensitivity: <10 pg/ml
• Preparation and Storage: Shipped and store at 4 degree C for 6 months, store at -20 degree C for one year. Avoid freeze/thaw cycles.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for EFEMP1 elisa kit

Principle of the Assay: The Human Fibulin 3 ELISA (Enzyme-Linked Immunosorbent Assay) kit is an in vitro enzyme-linked immunosorbent assay for the quantitative measurement of Human Fibulin 3 in Cell Culture Supernates, Serum, Plasma. This assay employs an antibody specific for Human Fibulin 3 coated on a 96-well plate. Standards and samples are pipetted into the wells and Fibulin 3 present in a sample is bound to the wells by the immobilized antibody. The wells are washed and biotinylated anti-Human Fibulin 3 antibody is added. After washing away unbound biotinylated antibody, HRP-conjugated streptavidin is pipetted to the wells. The wells are again washed, a TMB substrate solution is added to the wells and color develops in proportion to the amount of Fibulin 3 bound. The Stop Solution changes the color from blue to yellow, and the intensity of the color is measured at 450 nm.

Background: EGF-containing fibulin-like extracellular matrix protein 1 is a protein that in humans is encoded by the EFEMP1 gene. 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.

NCBI and Uniprot Product Information

• NCBI GI #: 86788015
• NCBI GeneID: 2202
• NCBI Accession #: NP_001034437.1
• NCBI GenBank Nucleotide #: NM_001039348.2
• UniProt Accession #: Q12805; Q541U7; A8K3I4; B4DW75; D6W5D2
• Molecular Weight: 39,195 Da
• NCBI Official Full Name: EGF-containing fibulin-like extracellular matrix protein 1
• NCBI Official Synonym Full Names: EGF containing fibulin like extracellular matrix protein 1
• NCBI Official Symbol: EFEMP1
• NCBI Official Synonym Symbols: DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3
• NCBI Protein Information: EGF-containing fibulin-like extracellular matrix protein 1
• UniProt Protein Name: EGF-containing fibulin-like extracellular matrix protein 1
• Protein Family: EGF-containing fibulin-like extracellular matrix protein
• UniProt Gene Name: EFEMP1
• UniProt Synonym Gene Names: FBLN3; FBNL; FIBL-3
• UniProt Entry Name: FBLN3_HUMAN

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; extracellular region; extracellular space

Molecular Function: epidermal growth factor receptor activity; epidermal growth factor receptor binding; protein binding

Biological Process: camera-type eye development; embryonic eye morphogenesis; epidermal growth factor receptor signaling pathway; negative regulation of chondrocyte differentiation; peptidyl-tyrosine phosphorylation; post-embryonic eye morphogenesis; regulation of transcription, DNA-dependent; visual perception

Disease: Doyne Honeycomb Retinal Dystrophy