TGM5

Chr 15AR

transglutaminase 5

Also known as: PSS2, TG(X), TGASE5, TGASEX, TGMX, TGX

NCBI Gene: 9333 ENSG00000104055 UniProt: O43548 OMIM: 603805

The encoded protein is a transglutaminase that catalyzes calcium-dependent cross-linking of proteins and contributes to cornified cell envelope formation in keratinocytes. Mutations cause peeling skin syndrome 2, an autosomal recessive disorder affecting skin integrity. The gene shows tolerance to loss-of-function variants (LOEUF 1.436), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.441 OMIM phenotype

Clinical Summary— TGM5

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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