Version 2.80

Part Descriptions

LP96191-9   APOB gene
The APOB gene encodes apoliprotein B, a primary protein component of low-density lipoprotein (LDL or "bad" cholesterol), very low-density lipoprotein (VLDL) and chylomicrons. Apolipoprotein B has 2 forms: the liver produces the B-100 form, which includes a region that is recognized by the ApoB/E LDL receptor, and the small intestine produces B-48, which is cleaved from B-100 and does not include the receptor region. [UniProt: P04114]

Mutations in the APOB gene are associated with two disorders: familial ligand-defective apoB-100 hypercholesterolemia (FDB) and familial hypobetalipoproteinemia (FHBL). FDB is associated with mutations in the APOB gene that affect the LDL receptor binding region. The most common mutation known to be associated with FDB is p.Arg3500Gln. Others include p.Arg3500Trp, p.Arg3531Cys, p.Arg3480Trp, and p.His3543Tyr. FHBL is associated with mutations in the APOB gene that result in truncated forms of apolipoprotein B. At least 50 different APOB mutations have been identified that are associated with FHBL. PMID: 15308601 Source: Regenstrief LOINC , UniProt: P04114

LP96191-9   APOB gene
The APOB gene (apolipoprotein B) [HGNC Gene ID:603] is located on chromosome 2p24-p23. This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] [NCBI Gene ID:338] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
APOB gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
APOB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
APOB gene Mut Anl Bld/T
Display Name
APOB gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
APOB gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.64
Last Updated
Version 2.64 (ADD)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο APOB στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Γονίδιο APOB
es-ES Spanish (Spain) Gen APOB Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen APOB:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) APOB gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) APOB, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene APOB Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) APOB-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (China) APOB 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 载脂蛋白B基因;apolipoprotein B gene 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=89323-0