peeling skin syndrome 2

Summary
Synonym
  • PSS2
Definition
A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2.
Super Class
peeling skin syndrome
Disease Ontology
DOID:0070521
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9333 TGM5 transglutaminase 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O43548 Protein-glutamine gamma-glutamyltransferase 5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025