Gene: SLC25A12

Alternate names for this Gene: AGC1|ARALAR|DEE39|EIEE39

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: solute carrier family 25 member 12

Type of Gene: protein-coding

rs1400816 in SLC25A12 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs1400816 in SLC25A12 gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs1400816 in SLC25A12 gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs1400816 in SLC25A12 gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs121434396 in SLC25A12 gene and Hypomyelination, Global Cerebral PMID 24515575 2014 AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

PMID 19641205 2009 AGC1 deficiency associated with global cerebral hypomyelination.

rs17428076 in SLC25A12 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.