Version 2.78

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35692-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35692-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SFTPC 基因
Synonyms: PSP-C;SFTP2;肺表面活性物质蛋白 C 基因;表面活性剂, 肺相关蛋白 C 基因;表面活性物质, 肺相关蛋白 C 基因
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