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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Abnormalities, Multiple / genetics*
-
Animals
-
Base Sequence
-
Carrier Proteins / genetics*
-
Chromosome Mapping
-
Chromosomes, Human, Pair 22 / genetics*
-
Citrates / metabolism
-
Citric Acid
-
Cleft Palate / genetics
-
Cloning, Molecular
-
Cricetinae
-
DiGeorge Syndrome / genetics*
-
Face / abnormalities
-
Heart Defects, Congenital / genetics
-
Humans
-
Hybrid Cells
-
In Situ Hybridization, Fluorescence
-
Mitochondria / chemistry
-
Molecular Sequence Data
-
Polymerase Chain Reaction
-
Schizophrenia / genetics*
-
Syndrome
Substances
-
Carrier Proteins
-
Citrates
-
citrate-binding transport protein
-
Citric Acid