| Alpha-1-antichymotrypsin | OKDB#: 2904 |
| Symbols: | AACT | Species: | human | ||
| Synonyms: | ACT, AACT, MGC88254,ANTICHYMOTRYPSIN, ALPHA-1, ACT|SERPINA3 | Locus: | 14q32.1 in Homo sapiens |
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Entrez Gene
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| General Comment | NCBI Summary: The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variation in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. | ||||
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| Cellular localization | Secreted | ||||
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| Comment | Multiple signalling defects in the absence of RIP140 impair both cumulus expansion and follicle rupture Tullet JM, et al . The expression of this gene was increased in the KO mice. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
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| created: | Aug. 18, 2005, 10:41 a.m. | by: |
hsueh email:
home page: |
| last update: | Aug. 18, 2005, 10:41 a.m. | by: | system email: |
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