Biology:Emopamil binding protein
 Generic protein structure example |
Emopamil binding protein is a protein that in humans is encoded by the EBP gene, located on the X chromosome.[1] 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 a σ-receptor that resides in the endoplasmic reticulum of various tissues as an integral membrane protein.[2]
Clinical significance
Mutations in EBP cause Conradi–Hünermann syndrome and impairs cholesterol biosynthesis.[3] 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.[4]
Cloning
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.[2]
See also
- Emopamil
- Cholestenol Delta-isomerase
- Sigma-1 receptor
- Sigma-2 receptor
References
- ↑ "Functional analysis of cholesterol biosynthesis by RNA interference". The Journal of Steroid Biochemistry and Molecular Biology 104 (3–5): 105–109. May 2007. doi:10.1016/j.jsbmb.2007.03.001. PMID 17498944.
- ↑ 2.0 2.1 "Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression". The Journal of Biological Chemistry 270 (13): 7551–7557. March 1995. doi:10.1074/jbc.270.13.7551. PMID 7706302.
- ↑ "A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2". American Journal of Medical Genetics. Part A 164A (7): 1642–1647. July 2014. doi:10.1002/ajmg.a.36508. PMID 24700572.
- ↑ "Chondrodysplasia Punctata". Obstetric Imaging: Fetal Diagnosis and Care (2nd ed.). Elsevier. 2018. pp. 259–261. doi:10.1016/b978-0-323-44548-1.00048-6. ISBN 978-0-323-44548-1.
External links
- GeneReviews/NCBI/NIH/UW entry on Chondrodysplasia Punctata 2, X-Linked, Conradi-Hünermann Syndrome, Happle Syndrome
- EBP+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
 |  |
