ISCA2 encodes a protein known as “Iron Sulfur Cluster Assembly 2 protein”. ISCA2 is mostly located in mitochondria and involve in assembly and maturation of rhombic Iron Sulphur clusters, known as [4Fe-4S] clusters, a vital member of iron-Sulfur cluster (ISC) biogenesis which plays a critical role for essential functions such as glycine cleavage and formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis and related members such as ISCA1 and IBA57 lead to various mitochondrial dysfunction syndromes. Similarly, genetic defects of ISCA2 causes infantile onset leukodystrophy.
ISCA2