DISEASES

Disease-gene associations mined from literature

Literature associating TGM3 and amyotrophic lateral sclerosis type 11

TGM3 [ENSP00000370867]

Protein-glutamine gamma-glutamyltransferase E; Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross- linking structural proteins to hardening the inner root sheath; Transglutaminases

Synonyms:  TGM3,  TGM3p,  hTGM3,  Q08188,  Q08188p ...

Linkouts:  STRING  Pharos  UniProt  OMIM