The enzyme galactose-1-phosphate uridyl transferase (E.C.2.7.7.12), which has an important function in the metabolism of galactose, exists in multiple molecular forms. The different phenotypes are genetically determined. They can be distinguished according to their electrophoretic mobility. The enzy
Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant
β Scribed by W. G. Ng; F. Kline; J. Lin; R. Koch; G. N. Donnell
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 850 KB
- Volume
- 1
- Category
- Article
- ISSN
- 0141-8955
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The frequency of variants of galactose-1-phosphate uridyl transferase was determined among the nine Greek populations by studying a sample of 1570 unselected individuals. Average frequency of normal allele GALT=0.942, galactosemia gen GALTG=0.0021 and the Duarte variant gene GALTD=0.0548 were observ
## Abstract An improved isoelectric focusing (IEF) technique has been developed and used to detect the erythrocyte galactoseβ1βphosphate uridyl transferase isoenzymes. The normal enzyme was resolved by IEF in four bands with isoelectric points (pI) between 5.80 and 6.08. Numerous samples, classifie
Galactosemia is an inborn error of galactose metabolism secondary to deficiency of galactose-1-phosphate uridyl transferase (GALT). GALT is a polymorphic enzyme and Duarte (D) is the most common enzyme variant. This variant is characterized by faster electrophoretic mobility and reduced activity. Du