Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
This
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
encodes one of several forms of
glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
encoded is responsible for catalyzing the production of
gamma-aminobutyric acid
GABA (gamma-aminobutyric acid, γ-aminobutyric acid) is the chief inhibitory neurotransmitter in the developmentally mature mammalian central nervous system. Its principal role is reducing neuronal excitability throughout the nervous system.
GA ...
from
L-glutamic acid. A pathogenic role for this enzyme has been identified in the
human
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
pancreas
The pancreas (plural pancreases, or pancreata) is an Organ (anatomy), organ of the Digestion, digestive system and endocrine system of vertebrates. In humans, it is located in the abdominal cavity, abdomen behind the stomach and functions as a ...
since it has been identified as an autoantigen and an autoreactive
T cell
T cells (also known as T lymphocytes) are an important part of the immune system and play a central role in the adaptive immune response. T cells can be distinguished from other lymphocytes by the presence of a T-cell receptor (TCR) on their cell ...
target in insulin-dependent
diabetes. This gene may also play a role in the
stiff man syndrome. Deficiency in this enzyme has been shown to lead to
pyridoxine dependency with seizures.
Alternative splicing
Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ...
of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form.
Interactions
GAD1 has been shown to
interact with
GAD2.
See also
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Glutamate decarboxylase
References
Further reading
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