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. SLC25A12 (Solute Carrier Family 25 Member 12) is a Protein Coding gene. Diseases associated with SLC25A12 include Developmental And Epileptic Encephalopathy 39 and Citrullinemia, Type Ii, Adult-Onset. Among its related pathways are Glycosaminoglycan metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and L-aspartate transmembrane transporter activity. An important paralog of this gene is SLC25A13. Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.
Background References
1. Puertas-Frías G. et. al. Mitochondrial movement in Aralar/Slc25a12/AGC1 deficient cortical neurons. Neurochem Int. 2019 Dec
2. Aoki Y. et. al. Mitochondrial Aspartate/Glutamate Carrier SLC25A12 and Autism Spectrum Disorder: a Meta-Analysis. Mol Neurobiol. 2016 Apr
Western blot analysis of SLC25A12 on different lysates with Rabbit anti-SLC25A12 antibody (HA721066) at 1/1,000 dilution.
Lane 1: A431 (Human epidermoid carcinoma skin squamous cell) cell lysate Lane 2: HeLa (Human cervical adenocarcinoma cell) cell lysate Lane 3: RAW264.7 (Mouse monocytic macrophage leukemia cell) cell lysate
Lysates/proteins at 20 µg/Lane. Exposure time: 80 seconds; ECL: K1802
Blocking: 5% NFDM/TBST, 1 hour at room temperature Primary antibody: HA721066, 1/1,000 in primary antibody dilution buffer (K1803), overnight at 4 ℃ Secondary antibody: Goat anti-Rabbit IgG-HRP (HA1001), 1/50,000 in 5% NFDM/TBST, 1 hour at room temperature
Predicted band size: 74.8 kDa Observed band size: 70 kDa
Western blot analysis of SLC25A12 on different lysates with Rabbit anti-SLC25A12 antibody (HA721066) at 1/1,000 dilution.
Lane 1: Mouse skeletal muscle tissue lysate Lane 2: Rat skeletal muscle tissue lysate
Lysates/proteins at 30 µg/Lane. Exposure time: 30 seconds; ECL: K1801
Blocking: 5% NFDM/TBST, 1 hour at room temperature Primary antibody: HA721066, 1/1,000 in primary antibody dilution buffer (K1803), overnight at 4 ℃ Secondary antibody: Goat anti-Rabbit IgG-HRP (HA1001), 1/50,000 in 5% NFDM/TBST, 1 hour at room temperature
Predicted band size: 74.8 kDa Observed band size: 70 kDa
Immunohistochemical analysis of paraffin-embedded mouse heart tissue with Rabbit anti-SLC25A12 antibody (HA721066) at 1/100 dilution.
The section was pre-treated using heat mediated antigen retrieval with Tris-EDTA buffer (pH 9.0) for 20 minutes. The tissues were blocked in 1% BSA for 20 minutes at room temperature, washed with ddH2O and PBS, and then probed with the primary antibody (HA721066) at 1/100 dilution for 1 hour at room temperature. The detection was performed using an HRP conjugated compact polymer system. DAB was used as the chromogen. Tissues were counterstained with hematoxylin and mounted with DPX.
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