MGP Database

MGP003614

UniProt Annotations

Entry Information
Gene Namesolute carrier family 25 (aspartate/glutamate carrier), member 12
Protein EntryCMC1_HUMAN
UniProt IDO75746
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75746-1; Sequence=Displayed; Name=2; IsoId=O75746-2; Sequence=VSP_054469; Note=No experimental confirmation available.;
DiseaseGlobal cerebral hypomyelination (GCHM) [MIM:612949]: A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. {ECO:0000269|PubMed:19641205, ECO:0000269|PubMed:24515575}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. {ECO:0000269|PubMed:11566871}.
MiscellaneousBinds calcium.
SimilarityBelongs to the mitochondrial carrier (TC 2.A.29) family. {ECO:0000305}.
SimilarityContains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule:PRU00282}.
SimilarityContains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
Subcellular LocationMitochondrion inner membrane {ECO:0000269|PubMed:9722566}; Multi-pass membrane protein {ECO:0000269|PubMed:9722566}.
Tissue SpecificityHigh levels in heart and skeletal muscle, low in brain and very low in kidney. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:9722566}.
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