GGPS1 across dismech

GGPS1 (geranylgeranyl diphosphate synthase 1) encodes the cytosolic enzyme that elongates farnesyl diphosphate to geranylgeranyl diphosphate, the donor for protein geranylgeranylation. It is named by 2 disorder entries: Muscular Dystrophy, Congenital Hearing Loss, and Ovarian Insufficiency Syndrome; and Perrault Syndrome.

Normal function

ai-gene-review gives GGPS1's core molecular function as geranylgeranyl diphosphate synthase activity, acting in geranylgeranyl diphosphate biosynthetic process in the cytosol.

Causative records

Only the muscular dystrophy entry types GGPS1 as causative (Muscular Dystrophy, Congenital Hearing Loss, and Ovarian Insufficiency Syndrome). Perrault Syndrome types it as unknown, because GGPS1 disease is a separate MONDO class and the Perrault genomic series treats GGPS1 as a candidate gene. In the muscular dystrophy entry the variants are recorded as partial loss of function, and the gene sits on Reduced Geranylgeranyl Diphosphate Synthase Activity, which marks the same synthase activity as decreased.

Where the layers disagree

ClinGen classifies GGPS1 for 0 diseases, so neither entry's typing can be checked against an external validity curation. The process the KB annotates on GGPS1's nodes is protein prenylation, downstream of the gene's own biosynthetic process, so the two layers share 0 GO terms by exact identifier.