APOOL
APOOL, a mitochondrial inner membrane protein involved in cristae formation and apoptosis regulation.
Gene Information Card
| Symbol | APOOL |
|---|---|
| Full Name | apolipoprotein O like |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 139322 ncbi.nlm.nih.gov/gene/139322 |
| Ensembl ID | ENSG00000102383 |
| UniProt ID | Q6UXV4 |
| OMIM ID | 300745 |
| HGNC ID | 28337 |
| Aliases | APOOL, C21orf58, MIC23, MICOS23, MICS23 |
Description
APOOL (apolipoprotein O like) encodes a mitochondrial inner membrane protein that is a component of the MICOS (mitochondrial contact site and cristae organizing system) complex. It plays a critical role in maintaining mitochondrial cristae morphology and is involved in apoptosis regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disorders | Disruption of cristae structure due to APOOL dysfunction may impair mitochondrial function. | ClinVar, OMIM |
| Cancer | Altered APOOL expression may affect apoptosis and mitochondrial dynamics in tumor cells. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Kidney | 7.4 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cells |
| HepG2 | 7.2 | Hepatocellular carcinoma |
| K562 | 6.1 | Leukemia 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 functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of MICOS complex integrity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • protein binding |
| • mitochondrial cristae organization | • apoptotic process |
Pathways
• Mitochondrial cristae organization (MICOS complex)
• Apoptosis
Protein Summary
APOOL is a 23 kDa mitochondrial inner membrane protein that localizes to cristae junctions as part of the MICOS complex. It is essential for maintaining proper cristae architecture and facilitating mitochondrial dynamics. The protein is ubiquitously expressed with highest levels in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOOL Knockout HEK293 Cell Line | EDJ-KQ9540 | Human | 139322 | 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 |
Displaying Records 1 To 4 Of 4 Records
