Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, KPK, Pakistan
Research Article
In Silico Structural Analysis and Molecular Docking of Human NPR2 Gene Causing Acromesomelic Dysplasia, Type Maroteaux
Author(s): Saqib Ishaq*, Obaid Habib, Raheel Tahir, Abdul Aziz, Shabir Ahmad Usmani, Naghma Gulfam, Muhammad Shadab Jahangir and Yasir Ali
Acromesomelic dysplasia maroteaux type is a severe skeletal disorder that is caused due to loss of function mutations in the NPR2 gene which leads to the dysfunction of the Natriuretic Peptide Receptor (NPR2). Skeletal growth in AMDM patients falls off sharply after birth causing abnormal growth plate and short misshapen bones in the extremities and carrier parents of AMDM children are shorter than average. This protein comprises four domains: The extracellular ligand-binding domain, carboxyl-terminal guanylyl cyclase catalytic domain, intracellular protein kinase homology domain, and single membrane-spanning region. The missence mutation occur in chromosome 9p13.q12 with accession ID: P20594, result amino acid changes at 907 of Threonine into Methionine. The aims of this study were to find out the underlined missense mutation p.T907M in Pakistani family effect with .. View More»
DOI: 10.36648/rjp.6.1.36
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