Aromatic L-amino acid decarboxylase: Difference between revisions

Revision as of 18:03, 11 February 2025

Aromatic L-amino acid decarboxylase

Aromatic L-amino acid decarboxylase (AADC), also known as DOPA decarboxylase, is an enzyme that catalyzes the decarboxylation of aromatic L-amino acids to produce their corresponding amines. This enzyme is crucial in the biosynthesis of several important neurotransmitters, including dopamine, serotonin, and histamine.

Function

Aromatic L-amino acid decarboxylase is a pyridoxal phosphate-dependent enzyme that plays a key role in the central nervous system and peripheral nervous system. It is responsible for converting L-DOPA to dopamine, 5-HTP to serotonin, and histidine to histamine. These neurotransmitters are vital for various physiological functions, including mood regulation, sleep, and the modulation of the immune response.

Structure

AADC is a homodimeric enzyme, meaning it consists of two identical subunits. Each subunit binds one molecule of pyridoxal phosphate, which is essential for its enzymatic activity. The enzyme's active site is located at the interface of the two subunits, where the decarboxylation reaction takes place.

Clinical significance

Deficiencies in AADC activity can lead to a rare genetic disorder known as AADC deficiency. This condition is characterized by a lack of dopamine and serotonin production, leading to severe developmental and neurological symptoms. Patients with AADC deficiency may experience developmental delays, movement disorders, and autonomic dysfunction.

Genetic aspects

The gene encoding AADC is located on chromosome 7 in humans. Mutations in this gene can lead to AADC deficiency. Genetic testing can identify these mutations, which is crucial for the diagnosis and management of the disorder.

Related pages

Gallery

Apple Day singing, Chepstow Drill Hall 2014

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-'''Aromatic L-amino acid decarboxylase''' (AADC) is an [[enzyme]] that plays a crucial role in the [[biochemical]] processes of the human body. It is responsible for the decarboxylation of aromatic L-amino acids, which are essential for the synthesis of several important [[neurotransmitters]] and [[hormones]].
+== Aromatic L-amino acid decarboxylase ==
+'''Aromatic L-amino acid decarboxylase''' (AADC), also known as '''DOPA decarboxylase''', is an enzyme that catalyzes the decarboxylation of aromatic L-amino acids to produce their corresponding amines. This enzyme is crucial in the biosynthesis of several important neurotransmitters, including [[dopamine]], [[serotonin]], and [[histamine]].
 == Function ==
+Aromatic L-amino acid decarboxylase is a [[pyridoxal phosphate]]-dependent enzyme that plays a key role in the [[central nervous system]] and [[peripheral nervous system]]. It is responsible for converting L-DOPA to dopamine, 5-HTP to serotonin, and histidine to histamine. These neurotransmitters are vital for various physiological functions, including mood regulation, sleep, and the modulation of the immune response.
-AADC is involved in the synthesis of several key neurotransmitters and hormones. It catalyzes the decarboxylation of aromatic L-amino acids, specifically [[L-DOPA]] to [[dopamine]], [[5-HTP]] to [[serotonin]], and [[L-tryptophan]] to [[tryptamine]]. These neurotransmitters and hormones play vital roles in various physiological functions, including mood regulation, motor control, and the body's response to stress.
 == Structure ==
+AADC is a homodimeric enzyme, meaning it consists of two identical subunits. Each subunit binds one molecule of pyridoxal phosphate, which is essential for its enzymatic activity. The enzyme's active site is located at the interface of the two subunits, where the decarboxylation reaction takes place.
-The AADC enzyme is a [[dimer]] composed of two identical subunits. Each subunit contains a [[pyridoxal phosphate]] (PLP) molecule, which is essential for the enzyme's catalytic activity. The PLP molecule forms a [[Schiff base]] with a lysine residue in the enzyme, which is crucial for the decarboxylation reaction.
 == Clinical significance ==
+Deficiencies in AADC activity can lead to a rare genetic disorder known as AADC deficiency. This condition is characterized by a lack of dopamine and serotonin production, leading to severe developmental and neurological symptoms. Patients with AADC deficiency may experience developmental delays, movement disorders, and autonomic dysfunction.
-Deficiency in AADC is a rare genetic disorder known as [[Aromatic L-amino acid decarboxylase deficiency]] (AADC deficiency). This condition is characterized by severe developmental delays, movement disorders, and autonomic dysfunction. It is caused by mutations in the [[DDC gene]], which encodes the AADC enzyme.
+== Genetic aspects ==
+The gene encoding AADC is located on chromosome 7 in humans. Mutations in this gene can lead to AADC deficiency. Genetic testing can identify these mutations, which is crucial for the diagnosis and management of the disorder.
-== See also ==
-* [[Decarboxylation]]
-* [[Neurotransmitter]]
-* [[Aromatic L-amino acid decarboxylase deficiency]]
-== References ==
+== Related pages ==
+* [[Dopamine]]
+* [[Serotonin]]
+* [[Histamine]]
+* [[Pyridoxal phosphate]]
-{{reflist}}
+== Gallery ==
+<gallery>
+File:Apple_Day_singing,_Chepstow_Dril_Hall_2014.jpg|Apple Day singing, Chepstow Drill Hall 2014
+</gallery>
 [[Category:Enzymes]]
-[[Category:Biochemistry]]
+[[Category:Neurotransmitter metabolism]]
-[[Category:Neurotransmitters]]
 [[Category:Genetic disorders]]
-{{enzyme-stub}}
-{{medicine-stub}}