GLUL across dismech

GLUL (glutamate-ammonia ligase) is named by 1 disorder entry.

Normal function

In the ingested ai-gene-review snapshot, GLUL's core molecular functions are ATP binding; glutamine synthetase activity; and protein-cysteine S-palmitoyltransferase activity, acting in L-glutamine biosynthetic process; intracellular ammonium homeostasis; protein palmitoylation; and regulation of endothelial cell migration. The upstream review is being revised to keep glutamine synthetase activity as the single core function, treating ATP binding as part of that reaction and the palmitoyltransferase activity as a non-core moonlighting role; this page will change when the ingest is refreshed.

Causative record

The one entry that names GLUL, Developmental and Epileptic Encephalopathy 116, types it causative with a de novo origin and a gain of function impact. The gene sits on the node GLUL Start-Loss and 5' UTR Splice Variants. The variants let the enzyme escape its normal glutamine-triggered degradation, so the entry marks glutamine synthetase activity as gained rather than lost.

Where the layers disagree

ClinGen classifies GLUL for 2 diseases. No dismech entry yet curates the recessive deficiency ClinGen classifies, congenital brain dysgenesis due to glutamine synthetase deficiency, which is the loss-of-function counterpart of the entry above.