|
Gene id |
2157 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
F8 Gene UCSC Ensembl |
|
Aliases |
AHF, DXS1253E, F8B, F8C, FVIII, HEMA |
|
Gene name |
coagulation factor VIII |
|
Alternate names |
coagulation factor VIII, antihemophilic factor, coagulation factor VIII A1 domain, coagulation factor VIII C2 domain, coagulation factor VIII, procoagulant component, coagulation factor VIIIc, factor VIII F8B, |
|
Gene location |
Xq28 (155022722: 154835787) Exons: 27 NC_000023.11
|
|
Gene summary(Entrez) |
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene
|
|
OMIM |
613899 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04610 | Complement and coagulation cascades | |
|
| Associated diseases |
References |
| Hemophilia | KEGG:H00219 |
| Hemophilia | KEGG:H00219 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21674046 |
Associated
with sper
matogenesi
s and epig
enetic reg
ulation
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
|