Identity
HGNC
LOCATION
6q25.1
LOCUSID
ALIAS
C6orf96,COXPD11,RMD1,bA351K16,bA351K16.3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55005
MIM: 614917
HGNC: 21176
Ensembl: ENSG00000155906
Variants:
dbSNP: 55005
ClinVar: 55005
TCGA: ENSG00000155906
COSMIC: RMND1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37450011 | 2024 | Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease. | 0 |
| 37450011 | 2024 | Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease. | 0 |
| 32911714 | 2020 | Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. | 12 |
| 32911714 | 2020 | Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. | 12 |
| 30601066 | 2019 | Association of RMND1/CCDC170-ESR1 single nucleotide polymorphisms with hip fracture and osteoporosis in postmenopausal women. | 8 |
| 31237926 | 2019 | Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation. | 1 |
| 30601066 | 2019 | Association of RMND1/CCDC170-ESR1 single nucleotide polymorphisms with hip fracture and osteoporosis in postmenopausal women. | 8 |
| 31237926 | 2019 | Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation. | 1 |
| 29671881 | 2018 | A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. | 8 |
| 29671881 | 2018 | A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects. | 8 |
| 26395190 | 2016 | Hearing impairment and renal failure associated with RMND1 mutations. | 6 |
| 26928228 | 2016 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. | 83 |
| 26395190 | 2016 | Hearing impairment and renal failure associated with RMND1 mutations. | 6 |
| 26928228 | 2016 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. | 83 |
| 23022098 | 2012 | An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. | 32 |
Citation
Dessen P
RMND1 (required for meiotic nuclear division 1 homolog)
Atlas Genet Cytogenet Oncol Haematol. 2016-08-01
Online version: http://atlasgeneticsoncology.org/gene/55903/rmnd1-(required-for-meiotic-nuclear-division-1-homolog)
