GALK1 CDNA Clones

The GALK1 gene encodes for a major enzyme involved in the metabolism of galactose. The protein coded is 392 amino acids long at a mass of around 42 kDA. A lack of the protein coded by the GALK1 gene results in infantile congenital cataracts and adult presenile cataracts. The GALK1 gene has also been linked to pneumonia, jaundice, hepatoblastoma, citrin deficiency, galactosemia, down syndrome, liver disease, ovarian cancer, and mevalonic aciduria. It interacts with DMWD, OTUD4, ATG2A, ATG10, AGO4 to function in galactose metabolism, the Leloir pathway, and colanic acid building blocks biosynthesis.