Keratinocyte transglutaminase

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Transglutaminase 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TGM1 ; ARCI1; ICR2; KTG; LI; LI1; TGASE; TGK
External IDs OMIM190195 MGI98730 HomoloGene306 ChEMBL: 2810 GeneCards: TGM1 Gene
EC number 2.3.2.13
RNA expression pattern
PBB GE TGM1 206008 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7051 21816
Ensembl ENSG00000092295 ENSMUSG00000022218
UniProt P22735 Q9JLF6
RefSeq (mRNA) NM_000359 NM_001161714
RefSeq (protein) NP_000350 NP_001155186
Location (UCSC) Chr 14:
24.72 – 24.73 Mb
Chr 14:
55.7 – 55.71 Mb
PubMed search [1] [2]

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[edit]

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

See also[edit]

References[edit]

  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[edit]

External links[edit]