Loading AI tools
Protein-coding gene in humans From Wikipedia, the free encyclopedia
Emopamil binding protein is a protein that in humans is encoded by the EBP gene, located on the X chromosome.[5] The protein is shown to have a high-affinity reception for anti-ischemic drugs, such as Emopamil, resulting in its discovery and given name. EBP has a mass of 27.3 kDa and resembles the σ2-receptor that resides in the endoplasmic reticulum of various tissues as an integral membrane protein.[6]
Mutations in EBP cause Conradi–Hünermann syndrome and impairs cholesterol biosynthesis.[7] Unborn males affected with EBP mutations are not expected to be liveborn, (with up to only 5% male births). Individuals, mostly female, that are liveborn with EBP mutations experience stunted growth, limb reduction and back problems. Later in life, the individual may develop cataracts along with coarse hair and hair loss.[8]
The inhibition of EBP promotes oligodendrocyte formation, which may help remyelination and thus limit multiple sclerosis development. [9]
Isolation, replication and characterization of the EBP and EBP-like protein have been performed in yeast/E. Coli strains (which lack the EBP protein in nature) to study the high-affinity drug binding effects.[6]
Seamless Wikipedia browsing. On steroids.
Every time you click a link to Wikipedia, Wiktionary or Wikiquote in your browser's search results, it will show the modern Wikiwand interface.
Wikiwand extension is a five stars, simple, with minimum permission required to keep your browsing private, safe and transparent.