Mitochondrial Transporters/Carriers
Mitochondria
Proteins that transport specific ions and charged metabolites across the inner mitochondrial membrane
Function/Purpose:
- Links cytosolic metabolites and mitochondrial metabolites
- Underlying support systems for metabolism
Fundamnetals
- Commits and transfers out key metabolites in metabolism
- Sequence in unclear
- 52 types - any information has a human assumption unless explicitly noted
- Not as well defined
- 33 identified with FUNCTION "but not yet truly satisfactory"
Types:
- 1)ADP-ATP Translocase
- Carries ADP in
- Transports ATP out
- 2)Dicarboxylate Carrier
- Carries Phospahte in
- Transprots Malate out
- 3)Tricarboxylate Carrier
- Carries Malate in
- Transports Citrate and H+ out
- 4)Pyruvate Carrier
- Carries Pyruvate in
- Transports OH- out
- 5)Phosphate Carrier
- Carries Phosphate in
- Transports OH out
Diseases:
- Undef condition
- First birthday = death
- Lactic acidosis, hypertrophic cardiomyopathy, muscular hypotonia
- Mitochondria defective in muscle/not fibroblasts
- Genetics: exon 3A spliced phosphate transporter and homozygous mutation in exon 3A
- Human Mitochondrial transport/carrier protein family.
Nonsynonymous single nucleotide polymorphisms (nsSNPs) and mutations
that lead to human disease 2006 Wohlrab
- Diseases caused by defects of mitochondrial carriers a review 2008 Palmieri
Additional Information:
