G2Cdb::Gene report
- Gene id
- G00002443
- Gene symbol
- SERPINA3 (HGNC)
- Species
- Homo sapiens
- Description
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
- Orthologue
- G00001194 (Mus musculus)
Databases (7)
Synonyms (2)
- ACT
- alpha-1-antichymotrypsin
Diseases (6)
| Disease | Nervous effect | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| D00000223: Hearing loss (hereditary progressive) | Y | Y | (10662538) | No mutation found (N) | ? |
| D00000234: Dilated cardiomyopathy | N | Y | (9563954) | Microinsertion (MI) | Y |
| D00000222: Hearing loss (autosomal dominant) | Y | Y | (14684684) | Single nucleotide polymorphism (SNP) | Y |
| D00000221: Hearing loss (age-related) | Y | Y | (13680526) | Microinsertion (MI) | Y |
| D00000219: Deafness (dominant) | Y | Y | (16773128) | Microinsertion (MI) | Y |
| D00000320: Athletic performance | N | Y | (17033684) | Polymorphism (P) | Y |
| D00000320: Athletic performance | N | Y | (16612741) | Polymorphism (P) | N |
| D00000320: Athletic performance | N | Y | (15977791) | Single nucleotide polymorphism (SNP) | Y |
| D00000320: Athletic performance | N | Y | (15886711) | Polymorphism (P) | Y |
| D00000320: Athletic performance | N | Y | (15718405) | Polymorphism (P) | ? |
References
Literature (155)
Pubmed - human_disease
Pubmed - other
Gene lists (4)
| Gene List | Source | Species | Name | Description | Gene count |
|---|---|---|---|---|---|
| L00000009 | G2C | Homo sapiens | Human PSD | Human orthologues of mouse PSD adapted from Collins et al (2006) | 1080 |
| L00000015 | G2C | Homo sapiens | Human NRC | Human orthologues of mouse NRC adapted from Collins et al (2006) | 186 |
| L00000016 | G2C | Homo sapiens | Human PSP | Human orthologues of mouse PSP adapted from Collins et al (2006) | 1121 |
| L00000034 | G2C | Homo sapiens | Pocklington H3 | Human orthologues of cluster 3 (mouse) from Pocklington et al (2006) | 30 |