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TGM5 encodes a member of the transglutaminase family.
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Acral PSS (Montrer CDSN Protéines) (APSS) (OMIM 609796), typically non-inflammatory, is confined to distal extremities with localized exfoliation of the epidermis. It is caused by mutations in the TGM5 gene, encoding transglutaminase 5 or in the CTSA (Montrer CTSA Protéines) gene, encoding cystatin A (Montrer CSTA Protéines) and it is inherited in autosomal recessive pattern
We report both European and non-European families with acral peeling skin syndrome carrying mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T.
study concludes polymorphisms of TGM5, PPAP2B (Montrer PPAP2B Protéines) and PSMA4 (Montrer PSMA4 Protéines) are not major contributors tonon-small cell lung cancer susceptibility in never-smoking hinese population, this primarily can be attributed to the significantly distinct genetic background of Asian populations from western populations
Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
analysis of a recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
transglutaminase 5 contributes, as a secondary effect, to the hyperkeratotic phenotype in ichthyosis (Montrer LBR Protéines) (both vulgaris and lamellar) and in psoriasis.
Results demonstrate that transglutaminase 5 is able to induce cell death when intracellularly overexpressed.
Data show that transglutaminase (TGase) 5 is acetylated at the N-terminal end, is active upon treatment with phorbol acetate, and co-localises with vimentin (Montrer VIM Protéines) intermediate filaments.
This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome.
, protein-glutamine gamma-glutamyltransferase 5-like
, TGase X
, protein-glutamine gamma-glutamyltransferase 5
, transglutaminase V
, transglutaminase X
, TGase 5