SLCtables

SLC25A12

Protein name: AGC1 (aspartate / glutamate carrier 1) Aliases: aralar1 Substrates: aspartate, glutamate Transport type: Exchanger / aspartate, glutamate, H+ Tissue and cellular expression: brain, heart, skeletal muscle, lung, pancreas, kidney, but not in liver Subcellular expression: inner mitochondrial membrane Disease: AGC1 deficiency, (autism) Locus: 2q24 Sequence ID: NP_003696.2, NM_003705.4 Gene ID: 8604 Splice variants: N/D

CMC1_HUMAN (UniProt)

Gene names: SLC25A12, ARALAR1
Protein names and data: CMC1_HUMAN, Full=Calcium-binding mitochondrial carrier protein Aralar1, Full=Mitochondrial aspartate glutamate carrier 1;Full=Solute carrier family 25 member 12; Length: 678 a.a., Mass: 74762 Da,
fasta formatted sequence
Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle
Disease: (OMIM: 603667 612949) Defects in SLC25A12 are the cause of global 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
Cellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Tissue specificity: High levels in heart and skeletal muscle, low in brain and very low in kidney

Database cross-references

UniProt: O75746
NextBio: 32241
OMIM: 603667 612949
Ensembl: ENST00000422440
GeneCard: GC02M171783
TCDB: 2.A.29.14.1
PharmGenUCSF: SLC25A12
Guide to Pharmacology: SLC25A12 (1054)
Mitochondrial amino acid transporter subfamily (1054)
HGNC: HGNC:10982

Genetic variants

See also Ensembl:ENST00000422440

473 - 473 R -> Q (in dbSNP:rs35565687). VAR_047917 35565687
590 - 590 Q -> R (in GCHM; the mutant protein is unable to transport aspartate or glutamate although it is able to integrate normally into the inner mitochondrial membrane). VAR_063253