Gene: SLC25A1

Alternate names for this Gene: CMS23|CTP|D2L2AD|SEA|SLC20A3

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: solute carrier family 25 member 1

Type of Gene: protein-coding

rs781925968 in SLC25A1 gene and Combined D-2- and L-2-hydroxyglutaric aciduria PMID 29226520 2018 A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

PMID 29238895 2018 An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

PMID 23561848 2013 Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

PMID 23393310 2013 Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

PMID 27306203 2016 Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

PMID 25614306 2015 Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

PMID 29031613 2018 Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

rs781908532 in SLC25A1 gene and MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC PMID 29031613 2018 Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

PMID 26870663 2019 Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

rs807668 in SLC25A1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.