Anti-MCCC1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The target MCCC1 also known as 3-methylcrotonyl-CoA carboxylase 1 is an enzyme with a molecular mass of approximately 83 kDa. It functions as one component of the mitochondrial protein complex that catalyzes the carboxylation of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA an important step in the leucine catabolic pathway. MCCC1 expresses ubiquitously in human tissues with significant expression levels detected in the liver heart and muscle tissues highlighting its metabolic importance.

Biological function summary

MCCC1 operates as a subunit of the larger 3-methylcrotonyl-CoA carboxylase complex a mitochondrial enzyme important to leucine degradation. By facilitating an early step in this amino acid's breakdown it plays a vital part in the metabolic processes that produce energy and carbon skeletons for biosynthetic pathways. MCCC1's activity reflects its responsibility in coordinating with biotin as a cofactor within the complex ensuring effective enzyme performance.

Pathways

MCCC1 participates in the leucine catabolism and branched-chain amino acid degradation pathways. These pathways incorporate proteins such as the HMG-CoA lyase and enoyl-CoA hydratase which work together to complete the degradation of leucine to acetoacetate and other intermediates. MCCC1 ensures the flow of substrate through these pathways creating links among several metabolic processes important for maintaining energy homeostasis and mitochondrial function.

Associated diseases and disorders

MCCC1 mutations lead to 3-methylcrotonyl-CoA carboxylase deficiency a metabolic disorder characterized by an inability to properly break down leucine causing symptoms like hypoglycemia developmental delays and muscle weakness. Connections to this disorder reveal interrelations with biotinidase as insufficient biotin impacts enzymatic function involving biotin-dependent carboxylases including MCCC1. Exploring these relationships furthers understanding of MCCC1's role in metabolic homeostasis and mitochondrial energy production.