GENETIC ENCYCLOPEDIA
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gene: SLC25A22

id79751
symbolSLC25A22
organismHomo sapiens
full namesolute carrier family 25 member 22
summaryThis gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
variant-disease

NM_001191061.2(SLC25A22):c.*34A>G AND Early myoclonic encephalopathy

NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) AND not specified

NM_001191061.2(SLC25A22):c.413-8G>C AND Early myoclonic encephalopathy

NM_001191061.2(SLC25A22):c.-163-881C>T AND not specified

NM_001191061.2(SLC25A22):c.294-13G>A AND not specified

... 358 more


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