LYRM7: A Key Mitochondrial Complex III Assembly Factor
Genetic insights into LYRM7-related mitochondrial complex III deficiency and its clinical spectrum
Gene Information Card
| Symbol | LYRM7 |
|---|---|
| Full Name | LYR motif containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.3-q31.1 |
| NCBI Gene ID | 90624 ncbi.nlm.nih.gov/gene/90624 |
| Ensembl ID | ENSG00000164199 |
| UniProt ID | Q5U5X0 |
| OMIM ID | 615831 |
| HGNC ID | 28012 |
| Aliases | MZM1L, FLJ14281 |
Description
LYRM7 encodes a mitochondrial protein containing a LYR (leucine-tyrosine-arginine) motif, which is essential for the assembly of mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase). The protein acts as a chaperone, facilitating the incorporation of the UQCRFS1 (Rieske iron-sulfur protein) subunit into complex III. Mutations in LYRM7 cause mitochondrial complex III deficiency, nuclear type 8 (MC3DN8), an autosomal recessive disorder characterized by encephalopathy, hypotonia, and lactic acidosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) | Loss-of-function mutations in LYRM7 impair complex III assembly, leading to reduced mitochondrial respiration and ATP production. | ClinVar, OMIM |
| Leigh syndrome | Biallelic LYRM7 variants cause Leigh-like phenotypes with complex III deficiency. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Low |
| Heart | 6.5 | Low |
| Brain | 5.1 | Low |
| Skeletal Muscle | 4.8 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.0 | Moderate expression |
| HeLa | 5.5 | Low expression |
| K-562 | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense/Start loss | Rare | Loss of protein function; associated with MC3DN8 |
| c.118A>G (p.Thr40Ala) | Missense | Rare | Impaired complex III assembly |
| c.194T>C (p.Leu65Pro) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Most LYRM7 mutations are loss-of-function, leading to complex III deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial respiratory chain complex III assembly | • Protein chaperone |
| • Mitochondrion | • Iron-sulfur cluster binding |
Pathways
• Mitochondrial complex III assembly
• Respiratory electron transport chain
Protein Summary
LYRM7 is a 14.5 kDa mitochondrial matrix protein that contains a conserved LYR motif. It specifically binds to the UQCRFS1 (Rieske iron-sulfur protein) precursor, stabilizing it and facilitating its insertion into complex III. Without functional LYRM7, complex III assembly is disrupted, causing mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LYRM7 Knockout HEK293 Cell Line | EDJ-KQ10628 | Human | 90624 | Details Get a Quote |
| LYRM7 Knockout A-549 Cell Line | EDJ-KQ38124 | Human | 90624 | Details Get a Quote |
| LYRM7 Knockout HCT 116 Cell Line | EDJ-KQ38125 | Human | 90624 | Details Get a Quote |
| LYRM7 Knockout HeLa Cell Line | EDJ-KQ38126 | Human | 90624 | Details Get a Quote |
