CCBL2
CCBL2: An Overview
Description:
CCBL2 (Cysteine-Conjugate Beta-Lyase 2) is a gene that encodes a protein involved in the metabolism of glutathione conjugates. These conjugates are formed when glutathione, a powerful antioxidant, binds to various toxic substances in the body. CCBL2 plays a crucial role in breaking down these conjugates, allowing the body to eliminate the toxins effectively.
Associated Diseases:
Mutations in the CCBL2 gene have been linked to several rare genetic disorders:
- Hyperglycinemia with Ketoacidosis: A condition characterized by elevated levels of the amino acid glycine in the blood and urine. This can lead to severe neurological issues, metabolic acidosis, and developmental delays.
- Microcephaly with Seizures and Hypotonia: A rare disorder marked by an abnormally small head (microcephaly), seizures, and low muscle tone (hypotonia).
- Neurodevelopmental Disorder with Autism and Macrocephaly: A condition characterized by developmental delays, autism spectrum disorder, and an enlarged head (macrocephaly).
Did you Know ?
Approximately 1 in every 50,000 people is estimated to have a mutation in the CCBL2 gene. This highlights the rarity of the genetic disorders associated with CCBL2 mutations.
