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SLC25A1 solute carrier family 25 member 1

Also known as: CTP; SEA; D2L2AD; SLC20A3

Summary

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Genomic context

Location:
22q11.21
Sequence:
Chromosome: 22; NC_000022.11 (19175575..19178863, complement)
Total number of exons:
10

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