Version 2.78

Description

The PSAP gene (surfactant protein A1) [HGNC Gene ID:9498] is located on chromosome 10q22.3. This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010] [NCBI Gene ID:653509] 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
PSAP gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
PSAP gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19759-7
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19759-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PSAP 基因
Synonyms: GLBA;Prosaposin;SAP1;异染性脑白质营养不良变种;戈谢病变种;脑硫脂沉积病变种;葡糖脑苷脂沉积病变种;鞘脂激活蛋白原;鞘脂激活蛋白原（prosaposin，是一种多功能糖蛋白。合成后的分子量为 53 kD，经过翻译加工后成为功能截然不同的两种蛋白）;高雪氏病变种
et-EE Estonian (Estonia) PSAP geen
es-ES Spanish (Spain) Gen PSAP
it-IT Italian (Italy) PSAP, gene
Synonyms: Gene PSAP
tr-TR Turkish (Turkey) PSAP geni
ru-RU Russian (Russian Federation) PSAP ген
nl-NL Dutch (Netherlands) PSAP-gen
Synonyms: PSAP gen