Version 2.78

Description

The F9 gene (coagulation factor IX) [HGNC Gene ID:3551] is located on chromosome Xq27.1-q27.2. This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2158] 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
F9 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-01-03
Construct for LOINC Short Name
F9 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34969-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34969-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) F9 基因
Synonyms: Christmas 因子;FIX;HEMB;PTC;凝血因子 9 基因;凝血因子 IX;凝血因子 IX 基因;凝血因子9;凝血因子Ⅸ;凝血因子Ⅸ基因;圣诞因子;圣诞病因子;圣诞节因子;科立斯因子
et-EE Estonian (Estonia) F9 geen
es-ES Spanish (Spain) Gen F9
it-IT Italian (Italy) F9, gene
Synonyms: Gene F9
tr-TR Turkish (Turkey) F9 geni
ru-RU Russian (Russian Federation) F9 ген
nl-NL Dutch (Netherlands) F9-gen
Synonyms: f9 gen