GALK1 Products

Description

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.

Bioinformatics

Entrez	2584 Human
Uniprot	AAH01166 Human NP_000145 Human P51570 Human
Product By Gene ID	2584
Alternate Names	EC 2.7.1.6 galactokinase 1 galactokinase Galactose kinase GALK GK1