MPV17L
Mitochondrial Inner Membrane Protein MPV17 Like
Gene Information Card
| Symbol | MPV17L |
|---|---|
| Full Name | MPV17 mitochondrial inner membrane protein like |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 255027 ncbi.nlm.nih.gov/gene/255027 |
| Ensembl ID | ENSG00000197976 |
| UniProt ID | Q8N4V2 |
| OMIM ID | 611649 |
| HGNC ID | 24842 |
| Aliases | M-LP, Mlp, MPV17L1 |
Description
MPV17L is a protein-coding gene located on chromosome 16p13.3. It encodes a mitochondrial inner membrane protein similar to MPV17. The protein is involved in mitochondrial function and may play a role in reactive oxygen species metabolism. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome | Loss of MPV17L function may impair mitochondrial maintenance | Limited evidence; MPV17 mutations are established, MPV17L role unclear |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Low |
| Kidney | 3.8 | Low |
| Heart | 2.1 | Low |
| Brain | 1.5 | Low |
| Testis | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 3.0 | Hepatocellular carcinoma cell line |
| HEK293 | 2.5 | Embryonic kidney cells |
| HeLa | 1.8 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245C>T (p.Pro82Leu) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not established for MPV17L
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • mitochondrion |
| • protein homodimerization activity |
Pathways
• Mitochondrial function
Protein Summary
MPV17L is a 176-amino acid mitochondrial inner membrane protein. It shares homology with MPV17 and is predicted to be involved in mitochondrial homeostasis. The protein may form homodimers and is expressed at low levels in various tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| 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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