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.
Showing posts with label epimerase-deficiency galactosemia. Show all posts
Showing posts with label epimerase-deficiency galactosemia. Show all posts
