Functional Classification of DDOST Variants of Uncertain Clinical Significance in Congenital Disorders of Glycosylation

ABSTRACT: identification of OST48 as a transient inetactor of lysyl oxidase (LOX)OST48 is a non catalytic component of the OST complex which transfers glycans to substrate proteins. OST48 is encoded by DDOST.43 cariants of DDOST are described in CDG patients

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Brain, Breast Epithelium, Cell Culture, Early Embryonic Cell

DISEASE(S): Congenital Disorder Of Glycosylation Type Ii

SUBMITTER: Duncan Smith  

LAB HEAD: Duncan Leonard Smith

PROVIDER: PXD042959 | Pride | 2023-10-18

REPOSITORIES: Pride