ALDH3B2

ALDH3B2 is a gene that encodes for a member of the aldehyde dehydrogenase (ALDH) superfamily. These enzymes are involved in the detoxification of aldehydes, which are produced during various metabolic processes and from environmental sources. Specifically, ALDH3B2 encodes aldehyde dehydrogenase 3 family, member B2.

Function:

ALDH3B2 plays a role in the oxidation of a wide range of aliphatic and aromatic aldehydes. It exhibits broad substrate specificity, meaning it can act on a variety of different aldehyde molecules. The enzyme catalyzes the NAD+-dependent oxidation of aldehydes to their corresponding carboxylic acids. This detoxification process is crucial for preventing the accumulation of toxic aldehydes in the body.

Location:

In humans, the ALDH3B2 gene is located on chromosome 11q23.3.

Clinical Significance:

Mutations in the ALDH3B2 gene have been associated with certain inherited metabolic disorders. For example, some mutations have been linked to Sjogren-Larsson Syndrome (SLS) in certain populations, though mutations in ALDH3A2 are the primary cause of SLS. Studies suggest that ALDH3B2 can compensate for loss of ALDH3A2 activity to some degree in the context of SLS. Loss-of-function mutations can lead to reduced enzyme activity, resulting in the build-up of specific aldehydes in tissues and fluids. This can manifest as various symptoms, depending on the specific mutation and the aldehydes that accumulate.

Protein Structure:

The ALDH3B2 protein is a homotetramer, meaning it is composed of four identical subunits. Each subunit contains a catalytic domain responsible for the enzymatic activity. The structure is similar to other aldehyde dehydrogenases, featuring a conserved NAD+ binding site and a catalytic cysteine residue involved in the oxidation reaction.

Further Research:

Research continues to investigate the specific roles of ALDH3B2 in various metabolic pathways and its contribution to human health and disease. Ongoing studies are aimed at identifying additional genetic variants that may impact ALDH3B2 activity and determining the functional consequences of these variants. Understanding the precise role of ALDH3B2 is important for developing potential therapeutic interventions for associated metabolic disorders.