Transglutaminase 1 (TGM1)

The TGM1 gene encodes transglutaminase-1, a catalytic membrane-bound enzyme that functions in the formation of the epidermal cornified cell envelope, which acts as a mechanical barrier to protect against water loss and infectious agents (Farasat et al., 2009).

Kim et al. (1992) demonstrated 2 variant forms of the TGM1 gene, the rarer of which contains a 2-nucleotide deletion near the 5-prime end, uses an alternate initiation codon, and differs from the common larger variant only in the first 15 amino acids. Furthermore, they showed that the DNA sequences of intron 14 possess several tracts of dinucleotide repeats that show wide size polymorphism in the human population.