RGD Reference Report - Mutations of keratinocyte transglutaminase in lamellar ichthyosis. - Rat Genome Database

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

Authors: Huber, M  Rettler, I  Bernasconi, K  Frenk, E  Lavrijsen, SP  Ponec, M  Bon, A  Lautenschlager, S  Schorderet, DF  Hohl, D 
Citation: Huber M, etal., Science. 1995 Jan 27;267(5197):525-8.
RGD ID: 1599417
Pubmed: PMID:7824952   (View Abstract at PubMed)

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.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
TGM1Humanautosomal recessive congenital ichthyosis 1  IAGP  RGD 
Tgm1Ratautosomal recessive congenital ichthyosis 1  ISORGD:731987 RGD 
Tgm1Mouseautosomal recessive congenital ichthyosis 1  ISORGD:731987 RGD 


Genes (Rattus norvegicus)
Tgm1  (transglutaminase 1)

Genes (Mus musculus)
Tgm1  (transglutaminase 1, K polypeptide)

Genes (Homo sapiens)
TGM1  (transglutaminase 1)