Keratinocyte transglutaminase

TGM1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTGM1, ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK, transglutaminase 1
External IDsOMIM: 190195 MGI: 98730 HomoloGene: 306 GeneCards: TGM1
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

7051

21816

Ensembl

ENSG00000092295

ENSMUSG00000022218

UniProt

P22735

Q9JLF6

RefSeq (mRNA)

NM_000359

NM_001161714
NM_001161715
NM_019984

RefSeq (protein)

NP_000350

NP_001155186
NP_001155187
NP_064368

Location (UCSC)Chr 14: 24.25 – 24.26 MbChr 14: 55.7 – 55.71 Mb
PubMed search[1][2]
Wikidata
View/Edit HumanView/Edit Mouse

Protein-glutamine gamma-glutamyltransferase K is an enzyme that in humans is encoded by the TGM1 gene.[3][4]

Keratinocyte transglutaminase is a transglutaminase enzyme.

Pathology

A deficiency is associated with ichthyosis lamellaris.[5] Epidermal transglutaminase is the autoantigen, in humans, of dermatitis herpetiformis.

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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. PMID 11390390. doi:10.1074/jbc.M102553200.
  4. "Entrez Gene: TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)".
  5. 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. PMC 1377076Freely accessible. PMID 9545389. doi:10.1086/301818.

Further reading


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