LP35692-0
SFTPC gene
Active
Description
The SFTPC gene (surfactant protein C) [HGNC Gene ID:10802] is located on chromosome 8p21. This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic 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. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010] [NCBI Gene ID:6440] 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 Display Name
- SFTPC gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-05-06
- Construct for LOINC Short Name
- SFTPC 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) | SFTPC 基因 Synonyms: PSP-C; |
et-EE | Estonian (Estonia) | SFTPC geen |
es-ES | Spanish (Spain) | Gen SFTPC |
it-IT | Italian (Italy) | SFTPC, gene Synonyms: Gene SFTPC |
tr-TR | Turkish (Turkey) | SFTPC geni |
ru-RU | Russian (Russian Federation) | SFTPC ген |
nl-NL | Dutch (Netherlands) | SFTPC-gen Synonyms: SFTPC gen |
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