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EC Number
BRENDA No.
Title
Journal
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Organism
PubMed ID
2.4.2.61
758731
Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5
Biochem. Biophys. Res. Commun.
497
1025-1030
2018
Homo sapiens
29477842
2.4.2.61
749531
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
Am. J. Hum. Genet.
91
1135-1143
2012
Homo sapiens
23217329
2.4.2.61
751071
The muscular dystrophy gene TMEM5 encodes a ribitol beta1,4-xlosyltransferase required for the functional glycosylation of dystroglycan
J. Biol. Chem.
291
24618-24627
2016
Homo sapiens
27733679
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