A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.

D Vaigundan, Neha V Kalmankar, J Krishnappa, N Yellappa Gowda, A V M Kutty, Patnam R Krishnaswamy

BioMed research international 2014

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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.

Citation

D Vaigundan, Neha V Kalmankar, J Krishnappa, N Yellappa Gowda, A V M Kutty, Patnam R Krishnaswamy. A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient. BioMed research international. 2014;2014:706827