Solute carrier family 25 member 22

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Solute carrier family 25 member 22 is a protein that in humans is encoded by the SLC25A22 gene. [1]

Function

This 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.

References

  1. "Entrez Gene: Solute carrier family 25 member 22". Retrieved 2016-10-15.

Further reading

  • Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, Palmieri L, Brunelle F, Palmieri F, Dulac O, Munnich A, Colleaux L (2009). "Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts". Clin. Genet. 76 (2): 188–94. doi:10.1111/j.1399-0004.2009.01236.x. PMID 19780765.
  • Palmieri F (2013). "The mitochondrial transporter family SLC25: identification, properties and physiopathology". Mol. Aspects Med. 34 (2–3): 465–84. doi:10.1016/j.mam.2012.05.005. PMID 23266187.


This article incorporates text from the United States National Library of Medicine, which is in the public domain.