LP35691-2
SFTPB gene
Active
Description
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
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
- SFTPB gene
- Part Display Name
- SFTPB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-05-06
- Construct for LOINC Short Name
- SFTPB gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SFTPB 基因 Synonyms: PSP-B; |
| es-ES | Spanish (Spain) | Gen SFTPB |
| it-IT | Italian (Italy) | SFTPB, gene Synonyms: Gene SFTPB |
| et-EE | Estonian (Estonia) | SFTPB geen |
| tr-TR | Turkish (Turkey) | SFTPB geni |
| ru-RU | Russian (Russian Federation) | SFTPB ген |
| nl-NL | Dutch (Netherlands) | SFTPB-gen Synonyms: SFTPB gen |
| el-GR | Greek (Greece) | Γονίδιο SFTPB Synonyms: Γονίδιο SFTPB |
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