RBCC Red Blood Cell Collection

MPCP_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: SLC25A3 , PHC , OK/SW-cl.48
Protein names and data: MPCP_HUMAN , Phosphate carrier protein, mitochondrial , Phosphate transport protein; PTP; Solute carrier family 25 member 3; Flags: Precursor Lenght: 362 a.a.
Mass: 40095 Da
fasta formatted sequence
Function: Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). May play a role regulation of the mitochondrial permeability transition pore (mPTP).
Disease: ( OMIM: 600370 610773 ) 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.
Cellular location: Mitochondrion inner membrane; Multi-pass membrane protein.

Genetic variants

72 - 72 G -> E (in MPCD). VAR_032850

Database cross-references

UniProt: Q00325
Ensembl: ENST00000188376
Ensembl: ENST00000228318
Ensembl: ENST00000401722
Ensembl: ENST00000549338
Ensembl: ENST00000551917
Ensembl: ENST00000552981
MIM: 600370
MIM: 610773
neXtProt: NX_Q00325
Antibodypedia: Q00325 (may not find the protein thus also not any antibody)
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