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The features of AGC1 (show ACAN Proteins) 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 (show ACAN Proteins) is involved in the glutamate (show GRIN1 Proteins)-mediated excitotoxicity in neurons and AGC (show ACAN Proteins) gene or protein alterations were discovered in rare human diseases. Review.
rs2056202 and rs2292813 in SLC25A12 may contribute significantly to autism spectrum disorders risk.
Compares and contrasts all the known human SLC25A (show SLC25A25 Proteins)* genes and includes functional information.
The physiological roles of AGC1 (show ACAN Proteins), its links to calcium homeostasis, and its involvement in autism pathogenesis, are reviewed.
Variants of the AGC1 (show ACAN Proteins)-encoding SLC25A12 gene were neither correlated with AGC (show ACAN Proteins) 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 (show INS Proteins) 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
Muller glia compensate for their unique metabolic adaptations by using lactate and aspartate from neurons as surrogates for their missing PK and AGC1 (show ACAN Proteins).
Aralar (show slc25a13 Proteins) 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 (show GRIN1 Proteins).
Aralar (show slc25a13 Proteins)-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 (show slc25a13 Proteins)-Knockout Mice.
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 (show ACAN Proteins) 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 (show GRIN1 Proteins) mitochondrial carriers aralar1 and citrin (show slc25a13 Proteins) during development
These results show that aralar (show slc25a13 Proteins) plays an important role in myelin formation by providing aspartate for the synthesis of N-acetylaspartate in neuronal cells.
aralar (show slc25a13 Proteins) has an essential role in the transduction of small Ca2 (show CA2 Proteins)+ signals to neuronal mitochondria
Aralar (show slc25a13 Proteins) and citrin (show slc25a13 Proteins), when expressed as single isoforms in heart, confer differences in Ca(2 (show CA2 Proteins)+) activation of shuttle activity, probably associated with their structural differences.
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