CHKB (gene)

CHKB is a gene that encodes the choline kinase beta enzyme in humans. This enzyme plays a crucial role in the biosynthesis of phospholipids, which are major components of all cellular membranes. Mutations in the CHKB gene have been associated with a variety of neuromuscular disorders.

Function

The CHKB gene encodes the beta isoform of choline kinase, an enzyme that catalyzes the first step in the CDP-choline pathway. This pathway leads to the production of phosphatidylcholine, a key phospholipid in cellular membranes. The enzyme uses ATP and choline as substrates to produce phosphocholine and ADP.

Clinical significance

Mutations in the CHKB gene have been linked to a number of neuromuscular disorders. These include congenital muscular dystrophies, myopathy and megaconial type congenital muscular dystrophy. Patients with these disorders often present with muscle weakness, hypotonia, and developmental delay.

Research

Research into the CHKB gene and its associated disorders is ongoing. Current areas of focus include understanding the molecular mechanisms underlying disease pathogenesis and developing potential therapeutic strategies.

See also

• Choline kinase
• Phospholipid
• Congenital muscular dystrophy
• Megaconial congenital muscular dystrophy