Biomaterial Database

The biochemical genetics of human gamma-aminobutyric acid transaminase. 1981

S Jeremiah, and S Povey

1. Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis. spinal cord and upper jejunum. The greatest activity occurs in liver. 3. Three different commonly occurring electrophoretic types of GABAT have been identified. It seems likely that they are determined by two alleles at an autosomal locus (GABAT). 4. The gene frequencies of GABAT1 and GABAT2 in a random sample of European livers were 0.56 and 0.44 respectively. 5. The three banded patterns seen in heterozygotes suggest that GABAT is a dimeric enzyme. 6. GABA, beta-alanine and 5-aminovaleric acid can act as substrates for GABAT. 7. GABAT activity can be demonstrated in all areas of human brain with the exception of the corpus callosum. Brain samples from patients with Huntington's chorea show no abnormal GABAT activity or unusual phenotypes.

UI	MeSH Term	Description	Entries
D007527	Isoenzymes	Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.	Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D004592	Electrophoresis, Starch Gel	Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.	Starch Gel Electrophoresis
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000612	4-Aminobutyrate Transaminase	An enzyme that converts brain gamma-aminobutyric acid (GAMMA-AMINOBUTYRIC ACID) into succinate semialdehyde, which can be converted to succinic acid and enter the citric acid cycle. It also acts on beta-alanine. EC 2.6.1.19.	Aminobutyrate Aminotransferase,GABA Transaminase,beta-Alanine Ketoglutarate Aminotransferase,GABA Aminotransferase,GABA-alpha-Ketoglutarate Aminotransferase,4 Aminobutyrate Transaminase,Aminotransferase, Aminobutyrate,Aminotransferase, GABA,Aminotransferase, GABA-alpha-Ketoglutarate,Aminotransferase, beta-Alanine Ketoglutarate,GABA alpha Ketoglutarate Aminotransferase,Ketoglutarate Aminotransferase, beta-Alanine,Transaminase, 4-Aminobutyrate,Transaminase, GABA,beta Alanine Ketoglutarate Aminotransferase
D000637	Transaminases	A subclass of enzymes of the transferase class that catalyze the transfer of an amino group from a donor (generally an amino acid) to an acceptor (generally a 2-keto acid). Most of these enzymes are pyridoxyl phosphate proteins. (Dorland, 28th ed) EC 2.6.1.	Aminotransferase,Aminotransferases,Transaminase
D014018	Tissue Distribution	Accumulation of a drug or chemical substance in various organs (including those not relevant to its pharmacologic or therapeutic action). This distribution depends on the blood flow or perfusion rate of the organ, the ability of the drug to penetrate organ membranes, tissue specificity, protein binding. The distribution is usually expressed as tissue to plasma ratios.	Distribution, Tissue,Distributions, Tissue,Tissue Distributions