APOB (apolipoprotein B (including Ag(x) antigen))

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Keyword

Gene: APOB (apolipoprotein B (including Ag(x) antigen)) Homo sapiens

Symbol:

APOB

Name:

apolipoprotein B (including Ag(x) antigen)

Description:

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]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

apo B-100; apoB-100; apoB-48; apolipoprotein b; apolipoprotein B-100; apolipoprotein B48; FLDB; LDLCQ4; mutant Apo B 100; OTTHUMP00000115994

Orthologs:

Mus musculus : Apob (apolipoprotein B) MGI
Rattus norvegicus : Apob (apolipoprotein B)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	2	21,141,971 - 21,184,617	-	NCBI
Human Genome Assembly HuRef	2	20,956,976 - 20,999,627	-	NCBI
Human Genome Assembly GRCh37	2	21,224,301 - 21,266,945	-	NCBI
Human Genome Assembly Build 36	2	21,077,806 - 21,120,450	-	NCBI
Human Cytogenetic Map	2	p24-p23		NCBI
Human Genome Assembly	2	21,135,952 - 21,178,597		NCBI