LP96191-9
APOB gene
Active
Descriptions
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
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
Basic Part Properties
- Part Name
- APOB gene
- Part Display Name
- APOB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-08-13
- Construct for LOINC Short Name
- APOB gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen APOB |
| it-IT | Italian (Italy) | APOB, gene Synonyms: Gene APOB |
| zh-CN | Chinese (China) | APOB 基因 Synonyms: 载脂蛋白B基因; |
| nl-NL | Dutch (Netherlands) | APOB-gen |
| el-GR | Greek (Greece) | Γονίδιο APOB Synonyms: Γονίδιο APOB |
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