GALE Gene

Defintion: The Official name of GALE  UDP-galactose-4-epimerase

Chromosome:1

Loaction :1p36-p35

Gene Size: 5206 bp( 23994676 to 23999881)


No Exons: 12

Description:
The GALE gene provides instructions for making an enzyme called UDP-galactose-4-epimerase. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose,


Disease :
Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, More than 20 mutations in the GALE gene have been identified in people with a form of galactosemia known as type III or galactose epimerase deficiency,a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified.