TGM3 Chromosome 20

Transglutaminase 3
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in TGM3.

What This Gene Does
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Transglutaminases
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000125780
Associated Conditions (1)
Uncombable hair syndrome 2
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS779702016 Health Risk Pathogenic Uncombable hair syndrome 2, Uncombable hair syndrome 2
Sign Up to Analyze Your DNA Log In