SLC35E2
The SLC35E2 Gene: Unraveling its Role in Health and Disease
Description
The SLC35E2 gene, located on chromosome 12q23.3, encodes a protein called solute carrier family 35 member E2. This protein belongs to a family of transmembrane proteins responsible for transporting various substances across cell membranes. SLC35E2 specifically transports glucose-6-phosphate (G6P), a key intermediate in the glycolysis pathway that generates energy for cellular processes.
Associated Diseases
Mutations in the SLC35E2 gene have been associated with several human diseases:
- Congenital Cataracts: SLC35E2 mutations can impair G6P transport in the lens of the eye, leading to the formation of cataracts, a clouding of the lens that obstructs vision.
- Peripheral Neuropathy: SLC35E2 deficiency can disrupt glucose metabolism in peripheral nerves, resulting in peripheral neuropathy, characterized by numbness, tingling, and weakness in the extremities.
- Mitochondrial Encephalopathy: Mutations in SLC35E2 have been linked to severe mitochondrial encephalopathy, a rare genetic disorder that affects the brain and nervous system.
Did you Know ?
Congenital cataracts caused by SLC35E2 mutations are estimated to occur in approximately 1 in 50,000 newborns.
