DHRS7C

Description

The DHRS7C (dehydrogenase/reductase 7C) is a protein-coding gene located on chromosome 17.

DHRS7C is an NADH-dependent oxidoreductase that catalyzes the conversion of all-trans-retinol to all-trans-retinal. It plays a crucial role in regulating metabolic functions in both cardiac and skeletal muscles. DHRS7C contributes to maintaining calcium homeostasis within cells by inhibiting calcium release from the sarcoplasmic reticulum in myotubes. This is likely achieved through local adjustments in the ratios of NAD/NADH or retinol/retinal. Furthermore, DHRS7C helps control calcium overload in both the cytosol and the sarcoplasmic reticulum of myotubes. It's also implicated in glucose uptake into skeletal muscles and muscle performance by stimulating the PI3K and mTORC2-mediated AKT1 phosphorylation signaling pathways, potentially through the action of its downstream product, all-trans-retinoic acid.

DHRS7C is also known as SDR32C2.

Associated Diseases

• colorectal cancer
• Duchenne muscular dystrophy
• autosomal dominant Emery-Dreifuss muscular dystrophy
• pulmonary hypertension
• Pallister-Hall syndrome
• cancer