GTR Home > Genes

SLC25A1 solute carrier family 25 member 1

Gene ID: 6576, updated on 8-Jan-2022
Gene type: protein coding
Also known as: CTP; SEA; CMS23; 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Congenital myasthenic syndromeSee labs
D,L-2-hydroxyglutaric aciduria
MedGen: C4076194OMIM: 615182GeneReviews: Not available
not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Myasthenic syndrome, congenital, 23, presynaptic
MedGen: C4748678OMIM: 618197GeneReviews: Not available
See labs
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available

Genomic context

Location:
22q11.21
Sequence:
Chromosome: 22; NC_000022.11 (19175581..19178736, complement)
Total number of exons:
10

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center