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Details of MRPL3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MRPL3 | MRL3,RPML3 | P09001 | RM03_HUMAN | 11222
| ENSG00000114686
| 39S ribosomal protein L3, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Combined oxidative phosphorylation deficiency 9 (COXPD9) [MIM:614582]: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614582 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
