NP_003696.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
62,720 Da
NCBI Official Full Name
calcium-binding mitochondrial carrier protein Aralar1
NCBI Official Synonym Full Names
solute carrier family 25 (aspartate/glutamate carrier), member 12
NCBI Official Synonym Symbols
NCBI Protein Information
calcium-binding mitochondrial carrier protein Aralar1; araceli hiperlarga; mitochondrial aspartate glutamate carrier 1; calcium binding mitochondrial carrier superfamily member Aralar1; solute carrier family 25 (mitochondrial carrier, Aralar), member 12
UniProt Protein Name
Calcium-binding mitochondrial carrier protein Aralar1
UniProt Synonym Protein Names
Mitochondrial aspartate glutamate carrier 1; Solute carrier family 25 member 12
UniProt Synonym Gene Names
UniProt Entry Name
CMC1_HUMAN
NCBI Summary for SLC25A12
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
UniProt Comments for SLC25A12
SLC25A12: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. Defects in SLC25A12 are the cause of global cerebral hypomyelination (GCHM). 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. Belongs to the mitochondrial carrier family.
Protein type: Membrane protein, integral; Transporter; Mitochondrial; Membrane protein, multi-pass; Transporter, SLC family
Chromosomal Location of Human Ortholog: 2q24
Cellular Component: mitochondrion; mitochondrial inner membrane; integral to membrane
Molecular Function: L-aspartate transmembrane transporter activity; calcium ion binding; L-glutamate transmembrane transporter activity
Biological Process: L-glutamate transport; carbohydrate metabolic process; glucose metabolic process; pathogenesis; aspartate transport; response to calcium ion; malate-aspartate shuttle; gluconeogenesis
Disease: Hypomyelination, Global Cerebral
Research Articles on SLC25A12
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Products associated with anti-SLC25A12 antibody
Pathways associated with anti-SLC25A12 antibody
Diseases associated with anti-SLC25A12 antibody
Organs/Tissues associated with anti-SLC25A12 antibody
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