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GZMM (Granzyme M) is a Protein Coding gene. Diseases associated with GZMM include Adrenal Insufficiency, Congenital, With 46Xy Sex Reversal, Partial Or Complete and Congenital Adrenal Insufficiency. Among its related pathways are Innate Immune System and Granzyme Pathway. GO annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is CFD.Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. Protein function: Cleaves peptide substrates after methionine, leucine, and norleucine. Physiological substrates include EZR, alpha-tubulins and the apoptosis inhibitor BIRC5/Survivin. Promotes caspase activation and subsequent apoptosis of target cells. [The UniProt Consortium]
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