SLC25A12 gene

solute carrier family 25 member 12

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Apr 2012]

From UniProt:

Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

From NCBI Gene:

  • Hypomyelination, global cerebral

From UniProt:

Epileptic encephalopathy, early infantile, 39 (EIEE39): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. [MIM:612949]

Cytogenetic Location: 2q31.1, which is the long (q) arm of chromosome 2 at position 31.1

Molecular Location: base pairs 171,783,405 to 171,894,306 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q31.1, which is the long (q) arm of chromosome 2 at position 31.1
  • AGC1
  • ARALAR
  • EIEE39