CDG1N

CDG1N, also known as Cysteine Dioxygenase 1, is a gene located on chromosome 10q24.31. It encodes for the enzyme cysteine dioxygenase, which plays a crucial role in the metabolism of cysteine, an amino acid. The gene is expressed in various tissues, including the brain, liver, and kidney, and its expression levels can be regulated by different factors such as hormones and cytokines.

Mutations in the CDG1N gene have been associated with a rare genetic disorder called Cystinosis, a lysosomal storage disorder characterized by the accumulation of cysteine in various tissues. Cystinosis can lead to a range of symptoms, including kidney failure, liver disease, and neurological abnormalities. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two mutated copies of the gene, one from each parent, to develop the condition.

Research on the CDG1N gene and its encoded protein is ongoing, with the aim of developing new therapeutic strategies for Cystinosis. Understanding the molecular mechanisms underlying cysteine metabolism and the role of CDG1N in this process is essential for the development of effective treatments for this rare genetic disorder.