title: The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia.
abstract: The gene encoding the human mitochondrial citrate transporter designated SLC20A3 was mapped to chromosome 22 by analyzing its segregation in a panel of human-hamster somatic cell hybrids. This assignment was confirmed by fluorescence in situ hybridization to metaphase chromosomes, and the gene was further localized to band 22q11.21. The gene is located in a critical region associated with allelic losses in a variety of clinical syndromes, including DiGeorge syndrome, velo-cardio-facial syndrome and a subtype of schizophrenia.
authors.affiliation: Laboratory of Metabolic Diseases, Rockefeller University, New York, NY 10021, USA.
authors.forename: M
authors.initials: M
authors.lastname: Stoffel
authors.forename: M
authors.initials: M
authors.lastname: Karayiorgou
authors.forename: R
authors.initials: R
authors.lastname: Espinosa
authors.forename: M M
authors.initials: MM
authors.lastname: Beau
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002951:Citrates / Q000378:metabolism; D019343:Citric Acid; D002972:Cleft Palate / Q000235:genetics; D003001:Cloning, Molecular; D006224:Cricetinae; D004062:DiGeorge Syndrome / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D008928:Mitochondria / Q000737:chemistry; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012559:Schizophrenia / Q000235:genetics*; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D002951:Citrates; C020723:citrate-binding transport protein; D019343:Citric Acid