Open AccessRecurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
Author(s) -
Shereen G. Ghosh,
Lu Wang,
Martin W. Breuss,
Joshua D Green,
Valentina Stanley,
Xiaoxu Yang,
Danica Ross,
Bryan J. Traynor,
Amal Alhashem,
Matloob Azam,
Laila Selim,
Lailá Bastaki,
Hanan I Elbastawisy,
Samia Temtamy,
Maha S. Zaki,
Joseph G. Gleeson
Publication year - 2019
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2019-106409
Subject(s) - protein disulfide isomerase , genetics , biology , exon , microcephaly , proband , frameshift mutation , haploinsufficiency , gene , mutation , endoplasmic reticulum , phenotype
Protein disulfide isomerase (PDI) proteins are part of the thioredoxin protein superfamily. PDIs are involved in the formation and rearrangement of disulfide bonds between cysteine residues during protein folding in the endoplasmic reticulum and are implicated in stress response pathways.