MGP Database

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MGP002905

UniProt Annotations

Entry Information
Gene Namesolute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
Protein EntryTXTP_HUMAN
UniProt IDP53007
SpeciesHuman
Comments
Comment typeDescription
DiseaseCombined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]: An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts. {ECO:0000269|PubMed:23561848}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway.
SimilarityBelongs to the mitochondrial carrier (TC 2.A.29) family. {ECO:0000305}.
SimilarityContains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule:PRU00282}.
Subcellular LocationMitochondrion inner membrane; Multi-pass membrane protein.
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