RMND1: Required for Meiotic Nuclear Division 1 Homolog
Mitochondrial Translation and Disease-Associated Gene
Gene Information Card
| Symbol | RMND1 |
|---|---|
| Full Name | Required for Meiotic Nuclear Division 1 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 55005 ncbi.nlm.nih.gov/gene/55005 |
| Ensembl ID | ENSG00000111860 |
| UniProt ID | Q9NWS4 |
| OMIM ID | 614917 |
| HGNC ID | 25476 |
| Aliases | C6orf167, FLJ10305, MGC131944 |
Description
The RMND1 gene encodes a protein required for mitochondrial translation and assembly of the oxidative phosphorylation complexes. It is essential for mitochondrial function, and mutations cause autosomal recessive mitochondrial encephalopathy with combined oxidative phosphorylation deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalopathy, combined oxidative phosphorylation deficiency 11 | Loss-of-function mutations impair mitochondrial translation, reducing ATP production | OMIM #614922; ClinVar pathogenic variants |
| Leigh syndrome | RMND1 mutations disrupt mitochondrial respiratory chain assembly | Case reports in NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 18.3 | Medium |
| Liver | 8.2 | Low |
| Kidney | 15.1 | Medium |
| Skeletal muscle | 20.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.8 | Cervical cancer cells |
| SH-SY5Y | 16.5 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.713A>G (p.Asn238Ser) | Missense | Rare | Loss of function; reduced mitochondrial translation |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
| c.850C>T (p.Arg284*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most RMND1 mutations are loss-of-function, leading to mitochondrial translation defects and combined oxidative phosphorylation deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial translation | • Mitochondrial respiratory chain complex assembly |
| • Mitochondrion | • Ribosome |
Pathways
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
The RMND1 protein is a mitochondrial inner membrane protein involved in the assembly of the mitochondrial ribosome and translation of mtDNA-encoded subunits of the oxidative phosphorylation complexes. It is critical for cellular energy production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RMND1 Knockout HEK293 Cell Line | EDJ-KQ2001 | Human | 55005 | Details Get a Quote |
| RMND1 Knockout A-549 Cell Line | EDJ-KQ23376 | Human | 55005 | Details Get a Quote |
| RMND1 Knockout HCT 116 Cell Line | EDJ-KQ23378 | Human | 55005 | Details Get a Quote |
| RMND1 Knockout HeLa Cell Line | EDJ-KQ23379 | Human | 55005 | Details Get a Quote |
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