功能Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycle.
组织特异性High levels in heart and skeletal muscle, low in brain and very low in kidney.
疾病相关Defects in SLC25A12 are the cause of aspartate-glutamate carrier 1 deficiency (AGC1D) [MIM:612949]; also called global cerebral hypomyelination. This syndrome consists of a child severe psychomotor retardation, hypotonia and hypomyelination of the central nervous system.
序列相似性Belongs to the mitochondrial carrier family. Contains 4 EF-hand domains. Contains 3 Solcar repeats.