Congenital Disorders of Glycosylation
Gene: GORAB
Many individuals reported in consanguineous families with Geroderma osteodysplasticum. Patients often have normal isoelectric focusing of serum transferrin. Recent publication demonstrated that loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi
enzymes, resulting in a deficit in glycosylation of secretory cargo proteins, thus supporting the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica (PMID: 30631079).
Sources: LiteratureCreated: 22 Jul 2020, 6:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geroderma osteodysplasticum MIM#231070
Publications
Gene: gorab has been classified as Green List (High Evidence).
Gene: gorab has been classified as Green List (High Evidence).
gene: GORAB was added gene: GORAB was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to PMID: 18348262; 28807865; 30631079. Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070 Penetrance for gene: GORAB were set to Complete Review for gene: GORAB was set to GREEN