EC=5.1.3.2
Alternative name(s):
- Galactowaldenase
- UDP-galactose 4-epimerase
Function
二つの異なるよく似た反応を触媒する。
Catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine.
Cofactor
NAD.
Pathway
Carbohydrate metabolism; galactose metabolism.
Subunit structure
Homodimer. Ref.7 Ref.13
Involvement in disease
Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG) [MIM:230350]; also known as galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development. Ref.2 Ref.8 Ref.9 Ref.10 Ref.12 Ref.13 Ref.14 Ref.15
Sequence similarities
Belongs to the sugar epimerase family.
