SLC25A12

Chr 2AR

solute carrier family 25 member 12

Also known as: AGC1, ARALAR, DEE39, EIEE39

NCBI Gene: 8604 ENSG00000115840 UniProt: O75746 OMIM: 603667

This gene encodes a calcium-binding mitochondrial carrier protein that exchanges aspartate for glutamate across the inner mitochondrial membrane. Mutations cause developmental and epileptic encephalopathy 39 through an autosomal recessive inheritance pattern, with a predicted gain-of-function mechanism. The protein dysfunction may also result in global cerebral hypomyelination.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 39MIM #612949

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.42

LOEUF

Multiple*

Mechanism· predicted