ACADSB

ACADSB (Short/Branched Chain Acyl-CoA Dehydrogenase) is a protein that in humans is encoded by the ACADSB gene. This protein is part of a family of enzymes known as acyl-CoA dehydrogenases, which are involved in the metabolism of fatty acids and some amino acids.

Function

The ACADSB protein is involved in the breakdown of the amino acids leucine, isoleucine, and valine. These amino acids are part of a group known as the branched-chain amino acids (BCAAs), which are named for their chemical structure. The ACADSB protein helps to convert these amino acids into energy.

Clinical significance

Mutations in the ACADSB gene can lead to a condition known as 2-methylbutyrylglycinuria, a rare disorder characterized by an inability to properly break down certain amino acids. Symptoms can include developmental delay, seizures, and a distinctive odor in the urine.

See also

• Acyl-CoA dehydrogenase
• Amino acid metabolism
• Branched-chain amino acid

External links

• NCBI Gene
• Genetics Home Reference