A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient-Reference-Cited by-同舟云学术

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Published:2014 Issue: Volume:2014 Page:1-6
ISSN:2314-6133
Container-title:BioMed Research International
language:en
Short-container-title:BioMed Research International

Author:

Vaigundan D.¹,Kalmankar Neha V.²³,Krishnappa J.⁴,Gowda N. Yellappa⁴,Kutty A. V. M.¹,Krishnaswamy Patnam R.¹

Affiliation:

1. Genomics and Central Research Laboratory, Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar 563101, India

2. Molecular Biophysics Unit, Indian Institute of Science, Bangalore 560012, India

3. National Centre for Biological Sciences, Bangalore 560065, India

4. Department of Paediatrics, Sri Devaraj Urs Medical College, Tamaka, Kolar 563101, India

Abstract

Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

Publisher

Hindawi Limited

Subject

General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://downloads.hindawi.com/journals/bmri/2014/706827.pdf

Reference21 articles.

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