SLC25A1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SLC25A1 wild-type allele is located in the vicinity of 22q11.21 and is approximately 3 kb in length. This allele, which encodes tricarboxylate transport protein, mitochondrial protein, is involved in intracellular citrate transport. Mutations in the gene are associated with combined D-2- and L-2-hydroxyglutaric aciduria and congenital presynaptic myasthenic syndrome 23.

**Synonyms:** - CIC - CMS23 - CTP - Citrate Isocitrate Carrier Gene - D2L2AD - SEA - SLC20A3 - Scheggia, Drosophila, Homolog of Gene - Solute Carrier Family 20 (Mitochondrial Citrate Transporter), Member 3 Gene - Solute Carrier Family 20 (Mitochondrial Citrate Transporter), Member 3, Formerly Gene - Solute Carrier Family 25 (Mitochondrial Carrier, Citrate Transporter), Member 1 Gene - Solute Carrier Family 25 (Mitochondrial Carrier; Citrate Transporter), Member 1 Gene - Solute Carrier Family 25 Member 1 wt Allele