Overview

Description

  • NatureSynthetic

Specifications

Our Abpromise guarantee covers the use of ab109654 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Blocking

  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20ºC.

    Preservative: None
    Constituents: DMF

General Info

  • Alternative names
    • ABCDS
    • Ednra
    • EDNRB
    • EDNRB_HUMAN
    • Endothelin B receptor
    • Endothelin B receptor precursor
    • Endothelin receptor Non selective type
    • Endothelin receptor non-selective type
    • Endothelin receptor type B
    • ET B
    • ET-B
    • ET-BR
    • ETB
    • ETBR
    • ETRB
    • Hirschsprung disease 2
    • HSCR
    • HSCR2
    • OTTHUMP00000018534
    • OTTHUMP00000178736
    • WS4A
    see all
  • FunctionNon-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.
  • Tissue specificityExpressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells.
  • Involvement in diseaseDefects in EDNRB are a cause of Waardenburg syndrome type 4A (WS4A) [MIM:277580]; also known as Waardenburg-Shah syndrome. WS4A 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).
    Defects in EDNRB are the cause of Hirschsprung disease type 2 (HSCR2) [MIM:600155]; also known as aganglionic megacolon (MGC). HSCR2 is a congenital disorder characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
    Defects in EDNRB are the cause of ABCD syndrome (ABCDS) [MIM:600501]. ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.
  • Sequence similaritiesBelongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.
  • Post-translational
    modifications
    Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405.
  • Cellular localizationCell membrane.
  • Information by UniProt

References for Endothelin B Receptor peptide (ab109654)

ab109654 has not yet been referenced specifically in any publications.

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