LP19702-7
F8 gene
Active
Description
The F8 gene (coagulation factor VIII, procoagulant component) [HGNC Gene ID:3546] is located on chromosome Xq28. 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 produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2157] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- F8 gene
- Part Display Name
- F8 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- F8 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | F8 基因 Synonyms: DXS1253E; |
| et-EE | Estonian (Estonia) | F8 geen |
| es-ES | Spanish (Spain) | Gen F8 |
| it-IT | Italian (Italy) | F8, gene Synonyms: Gene F8 |
| tr-TR | Turkish (Turkey) | F8 geni |
| ru-RU | Russian (Russian Federation) | F8 ген |
| nl-NL | Dutch (Netherlands) | F8-gen Synonyms: f8 gen |
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