Keratinocyte transglutaminase

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Protein-glutamine gamma-glutamyltransferase K is an enzyme that in humans is encoded by the TGM1 gene.[1][2]

Keratinocyte transglutaminase is a transglutaminase enzyme.

Pathology

A deficiency is associated with ichthyosis lamellaris.[3] Epidermal transglutaminase is the autoantigen, in humans, of dermatitis herpetiformis.

See also

References

  1. Grenard P, Bates MK, Aeschlimann D (Aug 2001). "Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z". J Biol Chem. 276 (35): 33066–78. doi:10.1074/jbc.M102553200. PMID 11390390.
  2. "Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)".
  3. Hennies HC, Küster W, Wiebe V, Krebsová A, Reis A (1998). "Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis". Am. J. Hum. Genet. 62 (5): 1052–61. doi:10.1086/301818. PMC 1377076. PMID 9545389.

Further reading

External links