Keratinocyte transglutaminase

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transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
Identifiers
Symbol TGM1
Alt. Symbols ICR2
Entrez 7051
HUGO 11777
OMIM 190195
RefSeq NM_000359
UniProt P22735
Other data
EC number 2.3.2.13
Locus Chr. 14 q11.2

Keratinocyte transglutaminase is a transglutaminase enzyme.

Pathology

A deficiency is associated with ichthyosis lamellaris.[1] Epidermal transglutaminase is the autoantigen, in humans, of dermatitis herpetiformis.

See also

References

  1. 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. PMID 9545389.

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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