Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiencyReportar como inadecuado




Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

3 Biotech

, Volume 4, Issue 6, pp 621–634

First Online: 24 April 2014Received: 12 February 2014Accepted: 01 April 2014

Abstract

Ornithine transcarbamylase OTC E.C. 2.1.3.3 is one of the enzymes in the urea cycle, which involves in a sequence of reactions in the liver cells. During protein assimilation in our body surplus nitrogen is made, this open nitrogen is altered into urea and expelled out of the body by kidneys, in this cycle OTC helps in the conversion of free toxic nitrogen into urea. Ornithine transcarbamylase deficiency OTCD: OMIM#311250 is triggered by mutation in this OTC gene. To date more than 200 mutations have been noted. Mutation in OTC gene indicates alteration in enzyme production, which upsets the ability to carry out the chemical reaction. The computational analysis was initiated to identify the deleterious nsSNPs in OTC gene in causing OTCD using five different computational tools such as SIFT, PolyPhen 2, I-Mutant 3, SNPsandGo, and PhD-SNP. Studies on the molecular basis of OTC gene and OTCD have been done partially till date. Hence, in silico categorization of functional SNPs in OTC gene can provide valuable insight in near future in the diagnosis and treatment of OTCD.

KeywordsOTC OTCD SIFT PolyPhen 2 I-Mutant 3 SNPsandGo PhD-SNP  Download fulltext PDF



Autor: R. Magesh - C. George Priya Doss

Fuente: https://link.springer.com/







Documentos relacionados