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Mutations of keratinocyte transglutaminase in lamellar ichthyosis.
Journal article

Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

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  • 1995-01-27
Published in:
  • Science (New York, N.Y.). - 1995
Base Sequence
Cell Membrane
Cells, Cultured
Codon
Female
Gene Deletion
Genetic Linkage
Heterozygote
Homozygote
Humans
Ichthyosis, Lamellar
Introns
Keratinocytes
Male
Membrane Proteins
Molecular Sequence Data
Mutation
Pedigree
Point Mutation
Protein Precursors
Transglutaminases
English Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.
Language
  • English
Open access status
closed
Identifiers
Persistent URL
https://sonar.ch/global/documents/180171
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