Literature summary for 3.2.1.46 extracted from

Saavedra-Matiz, C.A.; Luzi, P.; Nichols, M.; Orsini, J.J.; Caggana, M.; Wenger, D.A.
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbes disease (2016), J. Neurosci. Res., 94, 1076-1083 .

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Cloned(Commentary)

Cloned (Comment)	Organism
Newborn screening for Krabbe's disease, several variants in confirmed patients are identified. In some cases, polymorphisms is seen in cis with these variants. These variants are expressed in COS1 cells	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P54803	-	-

General Information

General Information	Comment	Organism
malfunction	Krabbe's disease, or globoid leukodystrophy, is an autosomal recessive disorder caused by a deficiency of galactocerebrosidase activity. Several variants in confirmed patients are identified by newborn screening for Krabbe's disease. In some cases, polymorphisms is seen in cis with these variants. These variants are expressed in COS1 cells, and the GALC activity measured is compared with known mutations and normal sequence. In some cases, the presence of polymorphisms on the same copy of the gene as a mutation results in very low galactocerebrosidase activity	Homo sapiens

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Release 2023.1 (January 2023)