Transglutaminase 5 (TGM5) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Oct 2009]

TGM5: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes. Defects in TGM5 are a cause of peeling skin syndrome type A (APSS). A non-inflammatory form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In APSS patients, skin peeling is strictly limited to the dorsa of the hands and feet, and it is accompanied by accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. Belongs to the transglutaminase superfamily. Transglutaminase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.3.2.13; Transferase

Chromosomal Location of Human Ortholog: 15q15.2

Cellular Component: cytoplasm

Molecular Function: protein-glutamine gamma-glutamyltransferase activity; metal ion binding

Biological Process: epidermis development; protein modification process; peptide cross-linking

Disease: Peeling Skin Syndrome 2