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Choline transporter-like protein 2 is a protein that in humans is encoded by the SLC44A2 gene.
Calcium-binding mitochondrial carrier protein Aralar1 is a protein that in humans is encoded by the SLC25A12 gene. Aralar is an integral membrane protein located in the inner mitochondrial membrane. Its primary function as an antiporter is the transport of cytoplasmic glutamate with mitochondrial aspartate across the inner mitochondrial membrane, dependent on the binding of one calcium ion. Mutations in this gene cause early infantile epileptic encephalopathy 39 (EIEE39), symptomized by global hypomyelination of the central nervous system, refractory seizures, and neurodevelopmental impairment. This gene has connections to autism.
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References
- ↑ "Entrez Gene: Solute carrier family 25 member 48" . Retrieved 2024-07-08.
- ↑ Khan A, Unlu G, Lin P, Liu Y, Kilic E, Kenny TC; et al. (2024). "Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import". Nat Genet. doi:10.1038/s41588-024-01827-2. PMID 38977856.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ↑ Verkerke ARP, Shi X, Abe I, Gerszten RE, Kajimura S (2024). "Mitochondrial choline import regulates purine nucleotide pools via SLC25A48". bioRxiv. doi:10.1101/2023.12.31.573776. PMC 10802347 . PMID 38260464.
{{cite journal}}: CS1 maint: multiple names: authors list (link)