APOO Gene - Apolipoprotein O
A comprehensive biomedical resource for APOO, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | APOO |
|---|---|
| Full Name | apolipoprotein O |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.11 |
| NCBI Gene ID | 79135 ncbi.nlm.nih.gov/gene/79135 |
| Ensembl ID | ENSG00000184831 |
| UniProt ID | Q9BUF5 |
| OMIM ID | 300753 |
| HGNC ID | 28727 |
| Aliases | FAM121B, MGC13170 |
Description
APOO (apolipoprotein O) is a protein-coding gene located on chromosome Xp22.11. The encoded protein is a component of high-density lipoprotein (HDL) and very-low-density lipoprotein (VLDL) particles, and is involved in lipid metabolism and mitochondrial function. APOO is expressed in multiple tissues and has been implicated in cardiovascular disease and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | APOO is a constituent of HDL and VLDL; altered expression may affect lipid transport and atherosclerosis risk. | PMID: 16959974 |
| Coronary artery disease | Variants in APOO have been associated with altered HDL cholesterol levels. | GWAS Catalog: GCST002223 |
| Cancer (general) | APOO expression is dysregulated in several cancers; potential role in mitochondrial apoptosis. | COSMIC: APOO |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Skeletal muscle | 6.2 | Low |
| Kidney | 5.1 | Low |
| Brain | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.6 | Hepatocellular carcinoma cell line |
| K562 | 4.3 | Chronic myeloid leukemia cell line |
| HeLa | 3.8 | Cervical adenocarcinoma cell line |
| A549 | 2.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
| c.200del | frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants in APOO are predicted to cause loss of function, potentially impairing lipid binding or mitochondrial localization.
Gain of Function (GOF)
No gain-of-function mutations have been reported for APOO.
Dominant Negative (DN)
No dominant-negative mutations have been described for APOO.
View complete mutation data：
Gene Ontology (GO)
Pathways
• HDL-mediated lipid transport (Reactome: R-HSA-8963898)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
Protein Summary
Apolipoprotein O (APOO) is a 198-amino acid protein that localizes to mitochondria and associates with HDL and VLDL particles. It plays a role in lipid transport and mitochondrial function. The protein contains a conserved apolipoprotein domain and is post-translationally modified by glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOOL Knockout HEK293 Cell Line | EDJ-KQ9540 | Human | 139322 | Details Get a Quote |
| APOO Knockout HEK293 Cell Line | EDJ-KQ11658 | Human | 79135 | Details Get a Quote |
| APOO Knockout A-549 Cell Line | EDJ-KQ41277 | Human | 79135 | Details Get a Quote |
| APOO Knockout HCT 116 Cell Line | EDJ-KQ41279 | Human | 79135 | Details Get a Quote |
| APOO Knockout HeLa Cell Line | EDJ-KQ41280 | Human | 79135 | Details Get a Quote |
| APOOL Knockout A-549 Cell Line | EDJ-KQ36324 | Human | 139322 | Details Get a Quote |
| APOOL Knockout HCT 116 Cell Line | EDJ-KQ36325 | Human | 139322 | Details Get a Quote |
| APOOL Knockout HeLa Cell Line | EDJ-KQ36326 | Human | 139322 | Details Get a Quote |
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