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Diseases
INTERMEDIARY METABOLISM: ENERGY
11 Other disorders of mitochondrial function
11.1 Disorders of mitochondrial shuttles and carriers
Mitochondrial citrate carrier deficiency
Mitochondrial phosphate carrier deficiency
Adenine nucleotide translocator deficiency
Mitochondrial dicarboxylate transporter deficiency
Mitochondrial oxoglutarate/malate carrier deficiency
Cytosolic glycerol-3-phosphate dehydrogenase deficiency
Mitochondrial oxodicarboxylate carrier deficiency
Mitochondrial glutamate transporter deficiency
Mitochondrial ATP-Mg/phosphate transporter deficiency
S-adenosylmethionine carrier deficiency
Mitochondrial pyrimidine nucleotide carrier deficiency
Mitochondrial glycine transporter deficiency
Mitochondrial calcium uniporter deficiency
Mitochondrial calcium uniporter 2 deficiency
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Gene products
Pathways
Multimers
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Diseases
INTERMEDIARY METABOLISM: ENERGY
11 Other disorders of mitochondrial function
11.1 Disorders of mitochondrial shuttles and carriers
Mitochondrial citrate carrier deficiency
Mitochondrial phosphate carrier deficiency
Adenine nucleotide translocator deficiency
Mitochondrial dicarboxylate transporter deficiency
Mitochondrial oxoglutarate/malate carrier deficiency
Cytosolic glycerol-3-phosphate dehydrogenase deficiency
Mitochondrial oxodicarboxylate carrier deficiency
Mitochondrial glutamate transporter deficiency
Mitochondrial ATP-Mg/phosphate transporter deficiency
S-adenosylmethionine carrier deficiency
Mitochondrial pyrimidine nucleotide carrier deficiency
Mitochondrial glycine transporter deficiency
Mitochondrial calcium uniporter deficiency
Mitochondrial calcium uniporter 2 deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Mitochondrial citrate carrier deficiency
Synonym(s)
Combined D-2- and L-2-hydroxyglutaric aciduria
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
SLC25A1
/ solute carrier family 25 member 1
22q11.21
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial citrate carrier protein
Disease group(s)
11.1 Disorders of mitochondrial shuttles and carriers