Known Diseases associated with this Protein: |  MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
| MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (MPCD)
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_032850 | Disease | p.GLY72GLU | Mitochondrial phosphate carrier deficiency (MPCD) | | OMIM | 600370.0001 | Disease | p.GLY72GLU | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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730052
MPCP_HUMAN RecName: Full=Phosphate carrier protein, mitochondrial; AltName: Full=Phosphate transport protein; Short=PTP; AltName: Full=Solute carrier family 25 member 3; Flags: Precursor
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