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Details of SLC25A3 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| SLC25A3 | PHC | Q00325 | MPCP_HUMAN | 5250
| ENSG00000075415
| Phosphate carrier protein, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]: Fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. Note=The disease is caused by mutations affecting the gene represented in this entry. |
610773 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
