Literature summary for 3.4.21.78 extracted from

Lee-Kirsch, M.A.; Chowdhury, D.; Harvey, S.; Gong, M.; Senenko, L.; Engel, K.; Pfeiffer, C.; Hollis, T.; Gahr, M.; Perrino, F.W.; Lieberman, J.; Hubner, N.
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus (2007), J. Mol. Med., 85, 531-537.

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Application

Application	Comment	Organism
medicine	studies on the role of granzyme A-mediated cell death in the pathogenesis of familial chilblain lupus	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P12544	affected individuals of familial chilblain lupus, an autosomal-dominant genodermatosis that is manifested in early childhood with ulcerating acral skin lesions associated with arthralgias and circulating antinuclear antibodies	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
lymphoblastoid cell line	less sensitivity to granzyme A-mediated cell death in lymphoblastoid cells carrying the D18N mutation in the 3'-5' DNA repair exonuclease TREX1 identified	Homo sapiens	-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg]	Specific Activity Maximum [µmol/min/mg]	Comment	Organism
additional information	-	studies on a corelation between the heterozygous missense mutation D18N in the 3'-5' DNA repair exonuclease TREX1 and the autoimmune disease chilblain lupus, granzyme A-mediated cytotoxicity assay described, less sensitivity to granzyme A-mediated cell death in cells carrying the D18N mutation of the 3'-5' DNA repair exonuclease TREX1 identified, association between loss of TREX1 enzyme activity and impaired granzyme A-mediated apoptosis demonstrated	Homo sapiens

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	studies on sensitivity to granzyme A-mediated cell death in chilblain lupus patients, less sensitivity to granzyme A-mediated apoptosis in cells carrrying the heterozygous missense mutation D18N in the 3'-5' DNA repair exonuclease TREX1	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
Gzma	-	Homo sapiens

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Release 2023.1 (January 2023)