TGM1 Back

transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)

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NCBI Description of TGM1
The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE).

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

TGM1 is highly significantly mutated in
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TGM1 is significantly mutated in
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TGM1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for TGM1