Aminoadipate-semialdehyde dehydrogenase

Aminoadipate-semialdehyde dehydrogenase is an enzyme that catalyzes the chemical reaction of converting L-2-aminoadipate 6-semialdehyde into L-2-aminoadipate. This enzyme belongs to the family of oxidoreductases, specifically those acting on the aldehyde or oxo group of donor with NAD+ or NADP+ as acceptor.

Location of the AASS gene on human chromosome 7.

Function

Aminoadipate-semialdehyde dehydrogenase is a key enzyme in the lysine degradation pathway. It is responsible for the conversion of L-2-aminoadipate 6-semialdehyde to L-2-aminoadipate, a critical step in the catabolism of lysine. This reaction is also important in the synthesis of glutamate, a crucial neurotransmitter in the central nervous system.

Structure

The enzyme is a protein that is encoded by the AASS gene in humans. The AASS gene is located on the long (q) arm of chromosome 7 at position 31.2. The encoded protein is 926 amino acids long and has a molecular weight of approximately 103 kDa.

Clinical significance

Mutations in the AASS gene can lead to a rare metabolic disorder known as hyperlysinemia. This condition is characterized by an excess of lysine in the blood, which can lead to various neurological symptoms such as seizures, intellectual disability, and behavioral problems.

See also

• Lysine
• Oxidoreductase
• Hyperlysinemia