41060-5
SFTPB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP35691-2 SFTPB gene
The SFTPB gene (surfactant protein B) [HGNC Gene ID:10801] is located on chromosome 2p12-p11.2. This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010] [NCBI Gene ID:6439]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SFTPB gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- SFTPB gene Mut Anl Bld/T
- Display Name
- SFTPB gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- SFTPB gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.63
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen SFTPB Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen SFTPB: |
| fr-FR | French (France) | SFTPB gène mutation cible trouvée: |
| it-IT | Italian (Italy) | SFTPB, gene analisi di mutazione mirata: Synonyms: Gene SFTPB Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | SFTPB 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | SFTPB-gen doelgerichte mutatie-analyse: Synonyms: molgen SFTPB gen targeted |
| pt-BR | Portuguese (Brazil) | SFTPB análise de mutação genética: Synonyms: PSP-B; |
| ru-RU | Russian (Russian Federation) | SFTPB ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | SFTPB geni Mutasyon analizi: |
| zh-CN | Chinese (China) | SFTPB 基因 突变分析: Synonyms: PSP-B; |
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=41060-5
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