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Article

Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.

The Journal of biological chemistry - 29 May 1998

Candi E, Melino G, Lahm A, Ceci R, Rossi A, Kim I G, Ciani B, Steinert P M

Abstract excerpt

Lamellar ichthyosis is a congenital recessive skin disorder characterized by generalized scaling and hyperkeratosis. It is caused by mutations in the TGM1 gene that encodes the transglutaminase 1 (TGase 1) enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGase 1 is a complex enzyme existing as both cytosolic and membrane-bound forms. Moreover,...

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Identifiers

PMID: 9593710
DOI: 10.1074/jbc.273.22.13693

Genes

TGM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.PMID 9593710Read ↗

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Semantic proximity Read ↗

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A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.Semantic proximity Read ↗

A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype.Semantic proximity Read ↗

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.Semantic proximity Read ↗

Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.Semantic proximity Read ↗

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Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.Semantic proximity Read ↗

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.Semantic proximity Read ↗

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