DHRS4

Ideogram human chromosome 14

DHRS4

DHRS4, also known as Dehydrogenase/Reductase SDR Family Member 4, is a gene that encodes a protein belonging to the short-chain dehydrogenase/reductase (SDR) superfamily. This gene is located on chromosome 14 in humans.

Function

DHRS4 is involved in the metabolism of various compounds, including steroids, retinoids, and fatty acids. It functions as a NADPH-dependent reductase, catalyzing the reduction of aldehydes and ketones to their corresponding alcohols.

Clinical Significance

Mutations in the DHRS4 gene have been associated with certain metabolic disorders, such as retinitis pigmentosa and Smith-Lemli-Opitz syndrome. These conditions can lead to vision problems, developmental delays, and other health issues.

Structure

The DHRS4 protein consists of several conserved domains characteristic of the SDR superfamily, including a Rossmann fold for NADPH binding and a catalytic tetrad for substrate binding and catalysis.

Regulation

The expression of DHRS4 is regulated by various factors, including hormones, dietary components, and cellular stress. Dysregulation of DHRS4 expression has been linked to metabolic imbalances and disease states.

Interactions

DHRS4 interacts with other proteins and enzymes involved in metabolic pathways, such as cytochrome P450 enzymes and aldo-keto reductases. These interactions play a crucial role in coordinating metabolic processes within cells.