Description
| Product Name: | EDN3 Recombinant Protein |
| Product Code: | RPPB1302 |
| Size: | 5mg |
| Target: | EDN3 |
| Synonyms: | EDN3, EDN-3, ET-3, ET3, WS4B, HSCR4, MGC15067, MGC61498, Endothelin-3, Preproendothelin-3, PPET3. |
| Physical Appearance: | Sterile Filtered White lyophilized (freeze-dried) powder. |
| Formulation: | The protein (1mg/ml) was lyophilized with no additives. |
| Solubility: | It is recommended to reconstitute the lyophilized EDN3 in sterile Acetic Acid not less than 0.5mg/ml, which can then be further diluted to other aqueous solutions. |
| Stability: | Lyophilized EDN3 although stable at room temperature for 3 weeks, should be stored desiccated below -18°C. Upon reconstitution EDN3 should be stored at 4°C between 2-7 days and for future use below -18°C.For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Please prevent freeze-thaw cycles. |
| Purity: | Greater than 97.0% as determined by RP-HPLC. |
| Amino Acid Sequence: | H-Cys-Thr-Cys-Phe-Thr-Tyr-Lys-Asp-Lys-Glu-Cys-Val-Tyr-Tyr-Cys-His-Leu-Asp-Ile-Ile-Trp-OH |
EDN3 interacts with endothelin receptor B, on the surface of cells. Throughout embryonic development, EDN3 takes part in neural crest cells that migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. EDN3 and EDN3R are necessary for the formation of nerves in the large intestine (enteric nerves) and melanocytes (produce melanin). Mutations in the EDN3 gene is linked with Waardenburg syndrome, type IV that is characterized by changes in skin, hair, and eye coloring. Mutations in the EDN3 gene is linked with Hirschsprung disease that causes severe constipation or intestinal blockage.
EDN3 contains 21 amino acids having a molecular mass of 2643.08 Dalton, and the molecular formula is: C121H168N26O33S4. Disulfide bonds between cys-1 and cys-15 + cys-3 and cys-11.
| UniProt Protein Function: | EDN3: Endothelins are endothelium-derived vasoconstrictor peptides. Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4); also known as aganglionic megacolon (MGC). A genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut; often resulting in intestinal obstruction. Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Defects in EDN3 are a cause of Waardenburg syndrome type 4 (WS4B); also known as Waardenburg-Shah syndrome. WS4B is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Belongs to the endothelin/sarafotoxin family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Secreted; Secreted, signal peptide Chromosomal Location of Human Ortholog: 20q13.2-q13.3 Cellular Component: extracellular space; extracellular region Molecular Function:hormone activity; receptor binding Biological Process: regulation of systemic arterial blood pressure by endothelin; blood circulation; multicellular organismal development; positive regulation of leukocyte chemotaxis; signal transduction; vein smooth muscle contraction; neuron differentiation; positive regulation of MAP kinase activity; cell surface receptor linked signal transduction; cell-cell signaling; melanocyte differentiation; positive regulation of cell proliferation; neural crest cell migration; artery smooth muscle contraction; vasoconstriction; neutrophil chemotaxis; inositol phosphate-mediated signaling; positive regulation of mitosis; positive regulation of hormone secretion; positive regulation of heart rate; peptide hormone secretion; cellular calcium ion homeostasis; regulation of gene expression; regulation of vasoconstriction; regulation of pigmentation during development; positive regulation of cell differentiation Disease: Hirschsprung Disease, Susceptibility To, 4; Waardenburg Syndrome, Type 4b; Central Hypoventilation Syndrome, Congenital |
| NCBI Summary: | The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] |
| UniProt Code: | P14138 |
| NCBI GenInfo Identifier: | 119618 |
| NCBI Gene ID: | 1908 |
| NCBI Accession: | P14138.1 |
| UniProt Secondary Accession: | P14138,Q03229, Q7Z6D2, Q9UGT7, E1P5I5, |
| UniProt Related Accession: | P14138 |
| Molecular Weight: | 23,596 Da |
| NCBI Full Name: | Endothelin-3 |
| NCBI Synonym Full Names: | endothelin 3 |
| NCBI Official Symbol: | EDN3�� |
| NCBI Official Synonym Symbols: | ET3; ET-3; WS4B; HSCR4; PPET3�� |
| NCBI Protein Information: | endothelin-3; preproendothelin-3 |
| UniProt Protein Name: | Endothelin-3 |
| UniProt Synonym Protein Names: | Preproendothelin-3; PPET3 |
| Protein Family: | Endothelin |
| UniProt Gene Name: | EDN3�� |
| UniProt Entry Name: | EDN3_HUMAN |
