FBP1 across dismech

FBP1 (fructose-bisphosphatase 1) is named by 1 disorder entry.

Causative record

The entry that names FBP1 types it as causative: Fructose-1,6-Bisphosphatase Deficiency, and records the variants as germline. Its genetic record is typed causative, and ClinGen rates FBP1 definitive for fructose-1,6-bisphosphatase deficiency, the entry's own disease.

Mechanism

In that entry the gene sits on the trigger node FBP1 Fructose-1,6-Bisphosphatase Deficiency, which conforms to the module metabolic_intoxication_decompensation. The GO processes on the nodes naming FBP1 are gluconeogenesis; the node marks that process, and FBP1's fructose 1,6-bisphosphate 1-phosphatase activity, as decreased.

Normal function

The pinned ai-gene-review snapshot that the ingest layer reads has no reviewed function for FBP1, so it contributes 0 core-function terms, and the KB and ai-gene-review share 0 GO process terms by exact identifier. An upstream review of FBP1 is being added; once the ingest is repinned, its core function is expected to be the same enzyme activity and process the KB node marks decreased.