SLC25A12 Antibody, HRP conjugated

1. Genetic variants of SLC25A12 may be associated with risks for childhood ASD. PMID: 28536923
2. 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. PMID: 27132995
3. 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. PMID: 25663199
4. rs2056202 and rs2292813 in SLC25A12 may contribute significantly to autism spectrum disorders risk. PMID: 25921325
5. Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation. PMID: 25410934
6. The physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis, are reviewed. PMID: 21691713
7. This study found no differences in the allele, genotype, or haplotype frequencies of these two SNPs between patients and controls. PMID: 19913066
8. 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. PMID: 18607376
9. SLC25A12 gene is linked to autism PMID: 15056512
10. Aralar1 has a role in determining glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells PMID: 15494407
11. These results suggest that SLC25A12 is not a major contributor to autism risk in these families. PMID: 16648338
12. it is unlikely that the SLC25A12 polymorphisms investigated play a substantial role in conferring susceptibility to schizophrenia PMID: 17693006
13. rs2056202 polymorphism in SLC25A12 may be associated with levels of routines and rituals in autism and related disorders PMID: 17894412
14. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. PMID: 18180767
15. SLC25A12 gene is associated with autism. PMID: 19360665

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HGNC: 10982

OMIM: 603667

KEGG: hsa:8604

STRING: 9606.ENSP00000388658

UniGene: Hs.470608