PMID: 7305280Jul 1, 1981

The biochemical genetics of human gamma-aminobutyric acid transaminase

Annals of Human Genetics
S Jeremiah, S Povey

Abstract

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.

References

Feb 10, 2000·Archives of Biochemistry and Biophysics·Y K KooRichard B Silverman
Apr 1, 1995·Clinical Biochemistry·F Sherif, S S Ahmed
Dec 1, 1994·Progress in Neuro-psychopharmacology & Biological Psychiatry·F Sherif
Feb 1, 1993·Comparative Biochemistry and Physiology. C, Comparative Pharmacology and Toxicology·F SherifL Oreland
Jan 1, 1992·Journal of Neural Transmission. General Section·F SherifL Oreland
Aug 26, 2014·Medicinal Research Reviews·Hyunbeom LeeRichard B Silverman
May 29, 2020·Journal of Biomolecular Structure & Dynamics·Anas Al-ObaidiKemal Yelekçi
Jan 1, 1989·British Journal of Clinical Pharmacology·J B BoltonA Richens

Related Concepts

Benign Neoplasm of Testis
Malignant Neoplasm of Jejunum
Neoplasm of Uncertain or Unknown Behavior of Testis
Malignant Neoplasm of Spinal Cord
Brain
Benign Tumor of Pancreas
Beta-Alanine
Neoplasm of Uncertain or Unknown Behavior of Spinal Cord
ABAT gene
Testis

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.