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Genetic variants of SLC25A12 may be associated with risks for childhood ASD.
The features of AGC1 structure and function in physiology and pathology, regulation by calcium, dependency on mitochondrial membrane potential, role in cancer cells, and tissue specificity are reviewed. AGC1 is involved in the glutamate-mediated excitotoxicity in neurons and AGC gene or protein alterations were discovered in rare human diseases. Review.
Sensitivity analyses including only studies with family-based design demonstrated significant association between autism spectrum disorders and SNPs rs2292813 and rs2056202. In contrast, sensitivity analyses including case-control design studies only failed to find a significant association. Review.
rs2056202 and rs2292813 in SLC25A12 may contribute significantly to autism spectrum disorders risk.
Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
The physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis, are reviewed.
This study found no differences in the allele, genotype, or haplotype frequencies of these two SNPs between patients and controls.
Variants of the AGC1-encoding SLC25A12 gene were neither correlated with AGC activation nor associated with autism-spectrum disorders in 309 simplex and 17 multiplex families.
SLC25A12 gene is linked to autism
Aralar1 has a role in determining glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells
These results suggest that SLC25A12 is not a major contributor to autism risk in these families.
it is unlikely that the SLC25A12 polymorphisms investigated play a substantial role in conferring susceptibility to schizophrenia
rs2056202 polymorphism in SLC25A12 may be associated with levels of routines and rituals in autism and related disorders
SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.
SLC25A12 gene is associated with autism.
Muller glia compensate for their unique metabolic adaptations by using lactate and aspartate from neurons as surrogates for their missing PK and AGC1.
Aralar protein & mRNA expressions were the same in adult neurons & astrocytes, whole brain,& well-differentiated astrocyte cultures, but not until late development, like the late-maturing brain ability to form & degrade glutamate.
Aralar-knockout postnatal mice show hyperactivity, anxiety-like behavior, and hyperreactivity with a decrease of dopamine (DA) in terminal-rich regions.
Postnatal Electrophysiological Development Is Arrested in Aralar-Knockout Mice.
the primary defect of pyramidal neurons in cerebral cortex is possibly associated with a progressive failure in glutamatergic neurotransmission and may be among the main causes of the pathology of aralar/AGC1 deficiency.
Aralar1 was clearly separated, unambiguously identified and characterized from protein extracts of mouse hippocampus by the use of the multidimensional gel electrophoretic steps.
Slc25a12-knockout mice, which showed no AGC1 by immunoblotting but displayed delayed development and died around 3 weeks after birth. In postnatal day 13 to 14 knockout brains, the brains were smaller with no obvious alteration in gross structure.
Expression of the aspartate/glutamate mitochondrial carriers aralar1 and citrin during development
These results show that aralar plays an important role in myelin formation by providing aspartate for the synthesis of N-acetylaspartate in neuronal cells.
aralar has an essential role in the transduction of small Ca2+ signals to neuronal mitochondria
Aralar and citrin, when expressed as single isoforms in heart, confer differences in Ca(2+) activation of shuttle activity, probably associated with their structural differences.
a possible role for aralar and MAS in priming the beta-cell by Ca2+-mobilizing neurotransmitter or hormones.
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.
calcium-binding mitochondrial carrier protein Aralar1
, solute carrier family 25 (mitochondrial carrier, Aralar), member 12
, mitochondrial solute carrier family 25 member 12
, araceli hiperlarga
, calcium binding mitochondrial carrier superfamily member Aralar1
, mitochondrial aspartate glutamate carrier 1
, solute carrier family 25, member 12
, solute carrier family 25 member 12