MPV17: Mitochondrial Inner Membrane Protein Key to mtDNA Maintenance and Disease
Comprehensive genomic and clinical overview of MPV17, a gene linked to mitochondrial DNA depletion syndromes and hepatocerebral disorders.
Gene Information Card
| Symbol | MPV17 |
|---|---|
| Full Name | Mitochondrial inner membrane protein MPV17 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 4358 ncbi.nlm.nih.gov/gene/4358 |
| Ensembl ID | ENSG00000115204 |
| UniProt ID | P39210 |
| OMIM ID | 137960 |
| HGNC ID | 7224 |
| Aliases | MPV17, MTP, SYM1, MPV17L |
Description
MPV17 encodes a mitochondrial inner membrane protein involved in mitochondrial DNA (mtDNA) maintenance and oxidative phosphorylation. Loss-of-function mutations lead to mtDNA depletion, particularly in liver and brain, causing hepatocerebral forms of mitochondrial DNA depletion syndrome (MDDS) and Navajo neurohepatopathy (NNH). The protein is thought to regulate mitochondrial nucleotide pools or membrane potential.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | Loss of MPV17 function reduces mtDNA copy number in liver and brain, impairing oxidative phosphorylation. | ClinVar, OMIM #256810 |
| Navajo neurohepatopathy | Founder mutations in MPV17 cause a severe infantile hepatocerebral disorder with neuropathy and liver failure. | OMIM #256810, ClinVar |
| MPV17-related hepatocerebral syndrome | Biallelic pathogenic variants lead to mtDNA depletion, presenting with hypotonia, lactic acidosis, and liver dysfunction. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Kidney | 9.7 | Low |
| Skeletal Muscle | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma line; high expression |
| SH-SY5Y | 7.8 | Neuroblastoma line; moderate expression |
| HeLa | 5.4 | Cervical carcinoma line; low expression |
| K562 | 3.1 | Leukemia line; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149G>A (p.Arg50Gln) | Missense | Founder in Navajo population | Loss of function; mtDNA depletion |
| c.278G>T (p.Trp93Leu) | Missense | Rare | Impaired protein stability; mtDNA depletion |
| c.106_107del (p.Leu36Valfs*13) | Frameshift | Rare | Loss of function; severe MDDS |
| c.412C>T (p.Arg138*) | Nonsense | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MPV17 pathogenic variants are loss-of-function, leading to mtDNA depletion and impaired oxidative phosphorylation.
Gain of Function (GOF)
No gain-of-function mutations reported for MPV17.
Dominant Negative (DN)
No dominant-negative mechanism described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Mitochondrial DNA maintenance |
| • Oxidative phosphorylation | • Response to oxidative stress |
| • Mitochondrial membrane organization |
Pathways
• Mitochondrial DNA depletion syndrome (MDDS)
• Oxidative phosphorylation
• Mitochondrial nucleotide metabolism
Protein Summary
MPV17 is a 176-amino acid mitochondrial inner membrane protein with four transmembrane domains. It is essential for maintaining mtDNA copy number, likely by regulating the mitochondrial deoxynucleotide pool or membrane potential. Defects cause mtDNA depletion in liver and brain, leading to severe hepatocerebral syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPV17 Knockout HEK293 Cell Line | EDJ-KQ5238 | Human | 4358 | Details Get a Quote |
| MPV17L2 Knockout HEK293 Cell Line | EDJ-KQ10194 | Human | 84769 | Details Get a Quote |
| MPV17L Knockout HEK293 Cell Line | EDJ-KQ11784 | Human | 255027 | Details Get a Quote |
| MPV17L2 Knockout HCT 116 Cell Line | EDJ-KQ36091 | Human | 84769 | Details Get a Quote |
| MPV17L Knockout A-549 Cell Line | EDJ-KQ40188 | Human | 255027 | Details Get a Quote |
| MPV17L Knockout HeLa Cell Line | EDJ-KQ40189 | Human | 255027 | Details Get a Quote |
| MPV17 Knockout A-549 Cell Line | EDJ-KQ28268 | Human | 4358 | Details Get a Quote |
| MPV17 Knockout HCT 116 Cell Line | EDJ-KQ28269 | Human | 4358 | Details Get a Quote |
| MPV17 Knockout HeLa Cell Line | EDJ-KQ28270 | Human | 4358 | Details Get a Quote |
| MPV17L2 Knockout A-549 Cell Line | EDJ-KQ37333 | Human | 84769 | Details Get a Quote |
| MPV17L2 Knockout HeLa Cell Line | EDJ-KQ37335 | Human | 84769 | Details Get a Quote |
| MPV17L Knockout HCT 116 Cell Line | EDJ-KQ76120 | Human | 255027 | Details Get a Quote |
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