ALKBH7
AlkB Homolog 7, a mitochondrial dioxygenase involved in alkylation damage repair and metabolism
Gene Information Card
| Symbol | ALKBH7 |
|---|---|
| Full Name | AlkB Homolog 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 84266 ncbi.nlm.nih.gov/gene/84266 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9BT30 |
| OMIM ID | 612308 |
| HGNC ID | 21013 |
| Aliases | ABH7, ALKBH7, MGC13170 |
Description
ALKBH7 encodes a mitochondrial protein belonging to the AlkB family of dioxygenases. It repairs alkylation damage in mitochondrial DNA and RNA by demethylating 1-methyladenine and 3-methylcytosine. The protein also influences cellular metabolism and apoptosis, and its loss impairs mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | ALKBH7 loss leads to increased alkylation damage and genomic instability in mitochondria, promoting tumorigenesis | PMID: 22199232 |
| Metabolic disorders | Deficiency alters mitochondrial respiration and lipid metabolism | PMID: 25378300 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Kidney | 8.9 | Medium |
| Brain | 5.1 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| HepG2 | 9.8 | Medium expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign |
| c.256C>T | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.256C>T) produce truncated protein, impairing alkylation repair and mitochondrial function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • oxidative demethylation |
| • mitochondrion | • metal ion binding |
| • dioxygenase activity |
Pathways
• Base excision repair
• Mitochondrial DNA repair
Protein Summary
ALKBH7 is a 229-amino acid mitochondrial dioxygenase that uses Fe2+ and alpha-ketoglutarate to demethylate alkylated bases in mitochondrial nucleic acids. It is essential for maintaining mitochondrial genome integrity and metabolic homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALKBH7 Knockout HEK293 Cell Line | EDJ-KQ9243 | Human | 84266 | Details Get a Quote |
| ALKBH7 Knockout A-549 Cell Line | EDJ-KQ37048 | Human | 84266 | Details Get a Quote |
| ALKBH7 Knockout HCT 116 Cell Line | EDJ-KQ37049 | Human | 84266 | Details Get a Quote |
| ALKBH7 Knockout HeLa Cell Line | EDJ-KQ37050 | Human | 84266 | Details Get a Quote |
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