cblC

CblC refers to the cationic amino acid transporter type clC. This type of transport protein is involved in the transport of cationic amino acids across the plasma membrane of various cells, including neurons. CblC is a North Carolina family with a history of severe and early onset Hunter syndrome, a genetic disorder caused by a deficiency of iduronate-2-sulfatase. Individuals with CblC are typically unable to break down certain sugars due to the mutated gene, which results in the accumulation of toxic substances in the body.

CblC is believed to arise due to a mutation in the HGSNAT (hexosaminidase A) gene, which is a pseudogene on the X chromosome. This mutation affects the 24th transmembrane domain of the cationic amino acid transporter. CblC carriers typically do not exhibit significant symptoms, whereas individuals with the condition often experience severe Hunter syndrome. Researchers have reported mutations within the CBLC gene to be a contributory factor in the condition.

The relationship between CblC and Hunter syndrome is well documented. A low folate pregnancy outcome after preconception paracetamol (acetaminophen) ingestion, has also been linked to the CblC mineral transport gene, although there is disagreement regarding the genetic component. The CblC gene is an important one in the study of genetic disorders affecting carbohydrate metabolism. Additional research is needed to further elucidate the mechanisms involved in its function and their impact on the human body.