Version 2.78

Description

The SERPINA1 gene (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1) [HGNC Gene ID:8941] is located on chromosome 14q32.1. The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5265] 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
SERPINA1 gene
Part Display Name
SERPINA1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
SERPINA1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19753-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19753-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) SERPINA1 基因
Synonyms: A1A;AAT;Alpha-1-抗胰蛋白酶缺乏;PI;PI1;α1抗胰蛋白酶缺乏;α-1-抗胰蛋白酶缺乏;丝氨酸(或半胱氨酸)蛋白水解酶抑制剂;丝氨酸(或半胱氨酸)蛋白酶抑制剂;丝氨酸蛋白水解酶抑制剂;丝氨酸蛋白酶抑制剂;半胱氨酸蛋白水解酶抑制剂;半胱氨酸蛋白酶抑制剂;抗弹性蛋白酶基因;抗胰肽酶 e 基因;蛋白水解酶抑制剂 1;蛋白酶抑制剂 1;蛋白酶抑制因子 1
et-EE Estonian (Estonia) SERPINA1 geen
es-ES Spanish (Spain) Gen SERPINA1
it-IT Italian (Italy) SERPINA1, gene
Synonyms: Gene SERPINA1
tr-TR Turkish (Turkey) SERPINA1 geni
ru-RU Russian (Russian Federation) SERPINA1 ген
nl-NL Dutch (Netherlands) SERPINA1-gen
Synonyms: SERPINA1 gen