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Gene Symbol |
GZMB |
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Aliases |
C11, CCPI, CGL-1, CGL1, CSP-B, CSPB, CTLA1, CTSGL1, HLP, SECT |
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Entrez Gene ID |
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Gene Name |
Granzyme B |
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Chromosomal Location |
14q12 |
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HGNC ID |
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Summary |
This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Granzyme B, T-cell serine protease 1-3E, cathepsin G-like 1, cytotoxic T-lymphocyte proteinase 2, cytotoxic serine protease B, fragmentin 2, granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1), human lymphocyte protein |
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Function |
This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis |
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UniProt |
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PDB |
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Pfam |
Pfam Accession |
Pfam ID |
PF00089 |
Trypsin |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000297679 |
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Q9H2F3 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Digestive System Diseases |
Hepatitis |
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Endocrine System Diseases |
PCOS |
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Neoplasms |
Breast Cancer |
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Psychiatric/Brain disorders |
Autistic Disorder |
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Skin and Connective Tissue Diseases |
Vitiligo |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PRF1 |
PCOS, cardiovascular diseases, subclinical atherosclerosis, insulin resistance, dyslipidemia, obesity, type 2 diabetes, inflammation |
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Amsterdam ESHRE/ASRM proposal and Rotterdam criteria |
Related
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83 PCOS patients and 89 control women |
Increased levels of serum granzyme-B are independently associated with insulin resistance and also with increased CV risk in adolescent polycystic ovary syndrome patients |
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