LP184363-2
SERPING1 gene
Active
Descriptions
Mutations in the SERPING1 gene causes deficiency of the C1 inhibitor (C1Inh) protein which leads to hereditary angioedema (HAE types I and II), a rare, life-threatening disease causing spontaneous edema of the submucosal layers with symptoms of swelling due to leakage of fluid from blood vessels into connective tissue. PMID: 21864911, PMID: 18220146 Missense, frameshift, splicing defects, and large deletion mutations have been identified in families with HAE. PMID: 21864911 Source: Regenstrief LOINC
The SERPING1 gene (serpin peptidase inhibitor, clade G (C1 inhibitor), member 1) [HGNC Gene ID:1228] is located on chromosome 11q12.1. This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008] [NCBI Gene ID:710] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Regenstrief LOINC | C1 Inhibitor Gene Mutation Database HAEdb |
Basic Part Properties
- Part Name
- SERPING1 gene
- Part Display Name
- SERPING1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-07-09
- Construct for LOINC Short Name
- SERPING1
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP184363-2
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen SERPING1 |
| zh-CN | Chinese (China) | SERPING1 基因 Synonyms: 丝氨酸蛋白酶抑制剂肽酶抑制因子, 进化枝 G (C1 抑制剂), 成员 1; |
| it-IT | Italian (Italy) | SERPING1, gene Synonyms: Gene SERPING1 |
| tr-TR | Turkish (Turkey) | SERPING1 geni |
| nl-NL | Dutch (Netherlands) | SERPING1-gen Synonyms: SERPING1 gen |
| el-GR | Greek (Greece) | Γονίδιο SERPING1 Synonyms: Γονίδιο SERPING1 |
LOINC Copyright
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